| Transcript | Gene symbol | Prediction | Tree vote | Model | Prediction problem | Splice site change | Known ClinVar disease mutation | Potential ClinVar disease mutation | Amino acid changes | Variant type | dbSNP ID | Protein length | Features at a glance |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ENST00000447712(MANE Select) | FGFR1 | Deleterious | 98|2 | simple_ | No | Single base exchange | Normal |
| |||||
| FGFR1 | Deleterious | 99|1 | simple_ | No | Single base exchange | Normal |
| ||||||
| FGFR1 | Deleterious | 99|1 | simple_ | No | Single base exchange | Normal |
| ||||||
| FGFR1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| FGFR1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| FGFR1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| FGFR1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| FGFR1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| FGFR1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| FGFR1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| FGFR1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| FGFR1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| FGFR1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| FGFR1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
| ||||||
| FGFR1 | Deleterious | 100|0 | simple_ | No | Single base exchange | Normal |
|
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | ||||||||||||||||
| Gene symbol | FGFR1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.27, LOF (oe): 0.18, misssense (oe): 0.65, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000447712.7 | ||||||||||||||||
| Genbank transcript ID | NM_023110 (exact from MANE) | ||||||||||||||||
| UniProt / AlphaMissense peptide | FGFR1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.1343G>A g.50520G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 8 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNRMP VAPYWTSPEK MEKKLHAVPA AKTVKFKCPS SGTPNPTLRW LKNGKEFKPD HRIGGYKVRY ATWSIIMDSV VPSDKGNYTC IVENEYGSIN HTYQLDVVER SPHRPILQAG LPANKTVALG SNVEFMCKVY SDPQPHIQWL KHIEVNGSKI GPDNLPYVQI LKTAGVNTTD KEMEVLHLRN VSFEDAGEYT CLAGNSIGLS HHSAWLTVLE ALEERPAVMT SPLYLEIIIY CTGAFLISCM VGSVIVYKMK SGTKKSDFHS QMAVHKLAKS IPLRRQVTVS ADSSASMNSG VLLVRPSRLS SSGTPMLAGV SEYELPEDPR WELPRDRLVL GKPLGEGCFG QVVLAEAIGL DKDKPNRVTK VAVKMLKSDA TEKDLSDLIS EMEMMKMIGK HKNIINLLGA CTQDGPLYVI VEYASKGNLR EYLQARRPPG LEYCYNPSHN PEEQLSSKDL VSCAYQVARG MEYLASKKCI HRDLAARNVL VTEDNVMKIA DFGLARDIHH IDYYKKTTNG RLPVKWMAPE ALFDRIYTHQ SDVWSFGVLL WEIFTLGGSP YPGVPVEELF KLLKEGHRMD KPSNCTNELY MMMRDCWHAV PSQRPTFKQL VEDLDRIVAL TSNQEYLDLS MPLDQYSPSF PDTRSSTCSS GEDSVFSHEP LPEEPCLPRH PAQLANGGLK RR* | ||||||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNRMP VAPYWTSPEK MEKKLHAVPA AKTVKFKCPS SGTPNPTLRW LKNGKEFKPD HRIGGYKVRY ATWSIIMDSV VPSDKGNYTC IVENEYGSIN HTYQLDVVER SPHRPILQAG LPANKTVALG SNVEFMCKVY SDPQPHIQWL KHIEVNGSKI GPDNLPYVQI LKTAGVNTTD KEMEVLHLRN VSFEDAGEYT CLAGNSIGLS HHSAWLTVLE ALEERPAVMT SPLYLEIIIY CTGAFLISCM VGSVIVYKMK SGTKKSDFHS QMAVHKLAKS IPLRRQVTVS ADSSASMNSG VLLVRPSQLS SSGTPMLAGV SEYELPEDPR WELPRDRLVL GKPLGEGCFG QVVLAEAIGL DKDKPNRVTK VAVKMLKSDA TEKDLSDLIS EMEMMKMIGK HKNIINLLGA CTQDGPLYVI VEYASKGNLR EYLQARRPPG LEYCYNPSHN PEEQLSSKDL VSCAYQVARG MEYLASKKCI HRDLAARNVL VTEDNVMKIA DFGLARDIHH IDYYKKTTNG RLPVKWMAPE ALFDRIYTHQ SDVWSFGVLL WEIFTLGGSP YPGVPVEELF KLLKEGHRMD KPSNCTNELY MMMRDCWHAV PSQRPTFKQL VEDLDRIVAL TSNQEYLDLS MPLDQYSPSF PDTRSSTCSS GEDSVFSHEP LPEEPCLPRH PAQLANGGLK RR* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2469 / 2469 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 823 / 823 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3212 / 3212 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 744 / 744 | ||||||||||||||||
| Last intron/exon boundary | 3035 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2241 | ||||||||||||||||
| Length of CDS | 2469 | ||||||||||||||||
| Coding sequence (CDS) position | 1343 | ||||||||||||||||
| cDNA position | 2086 | ||||||||||||||||
| gDNA position | 50520 | ||||||||||||||||
| Chromosomal position | 38418315 | ||||||||||||||||
| Speed | 0.04 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | ||||||||||||||||
| Gene symbol | FGFR1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.28, LOF (oe): 0.19, misssense (oe): 0.65, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000532791.5 | ||||||||||||||||
| Genbank transcript ID | NM_001174063 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | FGFR1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.1337G>A g.50520G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 8 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNRMP VAPYWTSPEK MEKKLHAVPA AKTVKFKCPS SGTPNPTLRW LKNGKEFKPD HRIGGYKVRY ATWSIIMDSV VPSDKGNYTC IVENEYGSIN HTYQLDVVER SPHRPILQAG LPANKTVALG SNVEFMCKVY SDPQPHIQWL KHIEVNGSKI GPDNLPYVQI LKTAGVNTTD KEMEVLHLRN VSFEDAGEYT CLAGNSIGLS HHSAWLTVLE ALEERPAVMT SPLYLEIIIY CTGAFLISCM VGSVIVYKMK SGTKKSDFHS QMAVHKLAKS IPLRRQVSAD SSASMNSGVL LVRPSRLSSS GTPMLAGVSE YELPEDPRWE LPRDRLVLGK PLGEGCFGQV VLAEAIGLDK DKPNRVTKVA VKMLKSDATE KDLSDLISEM EMMKMIGKHK NIINLLGACT QDGPLYVIVE YASKGNLREY LQARRPPGLE YCYNPSHNPE EQLSSKDLVS CAYQVARGME YLASKKCIHR DLAARNVLVT EDNVMKIADF GLARDIHHID YYKKTTNGRL PVKWMAPEAL FDRIYTHQSD VWSFGVLLWE IFTLGGSPYP GVPVEELFKL LKEGHRMDKP SNCTNELYMM MRDCWHAVPS QRPTFKQLVE DLDRIVALTS NQEYLDLSMP LDQYSPSFPD TRSSTCSSGE DSVFSHEPLP EEPCLPRHPA QLANGGLKRR * | ||||||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNRMP VAPYWTSPEK MEKKLHAVPA AKTVKFKCPS SGTPNPTLRW LKNGKEFKPD HRIGGYKVRY ATWSIIMDSV VPSDKGNYTC IVENEYGSIN HTYQLDVVER SPHRPILQAG LPANKTVALG SNVEFMCKVY SDPQPHIQWL KHIEVNGSKI GPDNLPYVQI LKTAGVNTTD KEMEVLHLRN VSFEDAGEYT CLAGNSIGLS HHSAWLTVLE ALEERPAVMT SPLYLEIIIY CTGAFLISCM VGSVIVYKMK SGTKKSDFHS QMAVHKLAKS IPLRRQVSAD SSASMNSGVL LVRPSQLSSS GTPMLAGVSE YELPEDPRWE LPRDRLVLGK PLGEGCFGQV VLAEAIGLDK DKPNRVTKVA VKMLKSDATE KDLSDLISEM EMMKMIGKHK NIINLLGACT QDGPLYVIVE YASKGNLREY LQARRPPGLE YCYNPSHNPE EQLSSKDLVS CAYQVARGME YLASKKCIHR DLAARNVLVT EDNVMKIADF GLARDIHHID YYKKTTNGRL PVKWMAPEAL FDRIYTHQSD VWSFGVLLWE IFTLGGSPYP GVPVEELFKL LKEGHRMDKP SNCTNELYMM MRDCWHAVPS QRPTFKQLVE DLDRIVALTS NQEYLDLSMP LDQYSPSFPD TRSSTCSSGE DSVFSHEPLP EEPCLPRHPA QLANGGLKRR * | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2463 / 2463 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 821 / 821 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3193 / 3193 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 731 / 731 | ||||||||||||||||
| Last intron/exon boundary | 3016 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2235 | ||||||||||||||||
| Length of CDS | 2463 | ||||||||||||||||
| Coding sequence (CDS) position | 1337 | ||||||||||||||||
| cDNA position | 2067 | ||||||||||||||||
| gDNA position | 50520 | ||||||||||||||||
| Chromosomal position | 38418315 | ||||||||||||||||
| Speed | 0.04 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | ||||||||||||||||
| Gene symbol | FGFR1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.31, LOF (oe): 0.21, misssense (oe): 0.65, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000335922.9 | ||||||||||||||||
| Genbank transcript ID | NM_001174064 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | FGFR1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.1313G>A g.50520G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 8 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Wildtype AA sequence | MAAVTRDFGE MLLHSGRVLP AEAQPWGAPV EVESFLVHPG DLLQLRCRLR DDVQSINWLR DGVQLAESNR TRITGEEVEV QDSVPADSGL YACVTSSPSG SDTTYFSVNV SDALPSSEDD DDDDDSSSEE KETDNTKPNR MPVAPYWTSP EKMEKKLHAV PAAKTVKFKC PSSGTPNPTL RWLKNGKEFK PDHRIGGYKV RYATWSIIMD SVVPSDKGNY TCIVENEYGS INHTYQLDVV ERSPHRPILQ AGLPANKTVA LGSNVEFMCK VYSDPQPHIQ WLKHIEVNGS KIGPDNLPYV QILKTAGVNT TDKEMEVLHL RNVSFEDAGE YTCLAGNSIG LSHHSAWLTV LEALEERPAV MTSPLYLEII IYCTGAFLIS CMVGSVIVYK MKSGTKKSDF HSQMAVHKLA KSIPLRRQVS ADSSASMNSG VLLVRPSRLS SSGTPMLAGV SEYELPEDPR WELPRDRLVL GKPLGEGCFG QVVLAEAIGL DKDKPNRVTK VAVKMLKSDA TEKDLSDLIS EMEMMKMIGK HKNIINLLGA CTQDGPLYVI VEYASKGNLR EYLQARRPPG LEYCYNPSHN PEEQLSSKDL VSCAYQVARG MEYLASKKCI HRDLAARNVL VTEDNVMKIA DFGLARDIHH IDYYKKTTNG RLPVKWMAPE ALFDRIYTHQ SDVWSFGVLL WEIFTLGGSP YPGVPVEELF KLLKEGHRMD KPSNCTNELY MMMRDCWHAV PSQRPTFKQL VEDLDRIVAL TSNQEYLDLS MPLDQYSPSF PDTRSSTCSS GEDSVFSHEP LPEEPCLPRH PAQLANGGLK RR* | ||||||||||||||||
| Mutated AA sequence | MAAVTRDFGE MLLHSGRVLP AEAQPWGAPV EVESFLVHPG DLLQLRCRLR DDVQSINWLR DGVQLAESNR TRITGEEVEV QDSVPADSGL YACVTSSPSG SDTTYFSVNV SDALPSSEDD DDDDDSSSEE KETDNTKPNR MPVAPYWTSP EKMEKKLHAV PAAKTVKFKC PSSGTPNPTL RWLKNGKEFK PDHRIGGYKV RYATWSIIMD SVVPSDKGNY TCIVENEYGS INHTYQLDVV ERSPHRPILQ AGLPANKTVA LGSNVEFMCK VYSDPQPHIQ WLKHIEVNGS KIGPDNLPYV QILKTAGVNT TDKEMEVLHL RNVSFEDAGE YTCLAGNSIG LSHHSAWLTV LEALEERPAV MTSPLYLEII IYCTGAFLIS CMVGSVIVYK MKSGTKKSDF HSQMAVHKLA KSIPLRRQVS ADSSASMNSG VLLVRPSQLS SSGTPMLAGV SEYELPEDPR WELPRDRLVL GKPLGEGCFG QVVLAEAIGL DKDKPNRVTK VAVKMLKSDA TEKDLSDLIS EMEMMKMIGK HKNIINLLGA CTQDGPLYVI VEYASKGNLR EYLQARRPPG LEYCYNPSHN PEEQLSSKDL VSCAYQVARG MEYLASKKCI HRDLAARNVL VTEDNVMKIA DFGLARDIHH IDYYKKTTNG RLPVKWMAPE ALFDRIYTHQ SDVWSFGVLL WEIFTLGGSP YPGVPVEELF KLLKEGHRMD KPSNCTNELY MMMRDCWHAV PSQRPTFKQL VEDLDRIVAL TSNQEYLDLS MPLDQYSPSF PDTRSSTCSS GEDSVFSHEP LPEEPCLPRH PAQLANGGLK RR* | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2439 / 2439 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 813 / 813 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3260 / 3260 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 822 / 822 | ||||||||||||||||
| Last intron/exon boundary | 3083 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2211 | ||||||||||||||||
| Length of CDS | 2439 | ||||||||||||||||
| Coding sequence (CDS) position | 1313 | ||||||||||||||||
| cDNA position | 2134 | ||||||||||||||||
| gDNA position | 50520 | ||||||||||||||||
| Chromosomal position | 38418315 | ||||||||||||||||
| Speed | 0.04 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | |||||||||||||
| Gene symbol | FGFR1 | |||||||||||||
| Gene constraints | no data | |||||||||||||
| Ensembl transcript ID | ENST00000703405.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1343G>A g.50520G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK HSGINSSDAE VLTLFNVTEA QSGEYVCKVS NYIGEANQSA WLTVTRPVAK ALEERPAVMT SPLYLEIIIY CTGAFLISCM VGSVIVYKMK SGTKKSDFHS QMAVHKLAKS IPLRRQVTVS ADSSASMNSG VLLVRPSRLS SSGTPMLAGV SEYELPEDPR WELPRDRLVL GKPLGEGCFG QVVLAEAIGL DKDKPNRVTK VAVKMLKSDA TEKDLSDLIS EMEMMKMIGK HKNIINLLGA CTQDGPLYVI VEYASKGNLR EYLQARRPPG LEYCYNPSHN PEEQLSSKDL VSCAYQVARG MEYLASKKCI HRDLAARNVL VTEDNVMKIA DFGLARDIHH IDYYKKTTNG RLPVKWMAPE ALFDRIYTHQ SDVWSFGVLL WEIFTLGGSP YPGVPVEELF KLLKEGHRMD KPSNCTNELY MMMRDCWHAV PSQRPTFKQL VEDLDRIVAL TSNQEYLDLS MPLDQYSPSF PDTRSSTCSS GEDSVFSHEP LPEEPCLPRH PAQLANGGLK RR* | |||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK HSGINSSDAE VLTLFNVTEA QSGEYVCKVS NYIGEANQSA WLTVTRPVAK ALEERPAVMT SPLYLEIIIY CTGAFLISCM VGSVIVYKMK SGTKKSDFHS QMAVHKLAKS IPLRRQVTVS ADSSASMNSG VLLVRPSQLS SSGTPMLAGV SEYELPEDPR WELPRDRLVL GKPLGEGCFG QVVLAEAIGL DKDKPNRVTK VAVKMLKSDA TEKDLSDLIS EMEMMKMIGK HKNIINLLGA CTQDGPLYVI VEYASKGNLR EYLQARRPPG LEYCYNPSHN PEEQLSSKDL VSCAYQVARG MEYLASKKCI HRDLAARNVL VTEDNVMKIA DFGLARDIHH IDYYKKTTNG RLPVKWMAPE ALFDRIYTHQ SDVWSFGVLL WEIFTLGGSP YPGVPVEELF KLLKEGHRMD KPSNCTNELY MMMRDCWHAV PSQRPTFKQL VEDLDRIVAL TSNQEYLDLS MPLDQYSPSF PDTRSSTCSS GEDSVFSHEP LPEEPCLPRH PAQLANGGLK RR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2469 / 2469 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 823 / 823 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3411 / 3411 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 943 / 943 | |||||||||||||
| Last intron/exon boundary | 3234 | |||||||||||||
| Theoretical NMD boundary in CDS | 2241 | |||||||||||||
| Length of CDS | 2469 | |||||||||||||
| Coding sequence (CDS) position | 1343 | |||||||||||||
| cDNA position | 2285 | |||||||||||||
| gDNA position | 50520 | |||||||||||||
| Chromosomal position | 38418315 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | ||||||||||||||||
| Gene symbol | FGFR1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.25, LOF (oe): 0.16, misssense (oe): 0.65, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000397091.9 | ||||||||||||||||
| Genbank transcript ID | NM_015850 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | FGFR1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.1337G>A g.50520G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 8 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDFHSQM AVHKLAKSIP LRRQVTVSAD SSASMNSGVL LVRPSRLSSS GTPMLAGVSE YELPEDPRWE LPRDRLVLGK PLGEGCFGQV VLAEAIGLDK DKPNRVTKVA VKMLKSDATE KDLSDLISEM EMMKMIGKHK NIINLLGACT QDGPLYVIVE YASKGNLREY LQARRPPGLE YCYNPSHNPE EQLSSKDLVS CAYQVARGME YLASKKCIHR DLAARNVLVT EDNVMKIADF GLARDIHHID YYKKTTNGRL PVKWMAPEAL FDRIYTHQSD VWSFGVLLWE IFTLGGSPYP GVPVEELFKL LKEGHRMDKP SNCTNELYMM MRDCWHAVPS QRPTFKQLVE DLDRIVALTS NQEYLDLSMP LDQYSPSFPD TRSSTCSSGE DSVFSHEPLP EEPCLPRHPA QLANGGLKRR * | ||||||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDFHSQM AVHKLAKSIP LRRQVTVSAD SSASMNSGVL LVRPSQLSSS GTPMLAGVSE YELPEDPRWE LPRDRLVLGK PLGEGCFGQV VLAEAIGLDK DKPNRVTKVA VKMLKSDATE KDLSDLISEM EMMKMIGKHK NIINLLGACT QDGPLYVIVE YASKGNLREY LQARRPPGLE YCYNPSHNPE EQLSSKDLVS CAYQVARGME YLASKKCIHR DLAARNVLVT EDNVMKIADF GLARDIHHID YYKKTTNGRL PVKWMAPEAL FDRIYTHQSD VWSFGVLLWE IFTLGGSPYP GVPVEELFKL LKEGHRMDKP SNCTNELYMM MRDCWHAVPS QRPTFKQLVE DLDRIVALTS NQEYLDLSMP LDQYSPSFPD TRSSTCSSGE DSVFSHEPLP EEPCLPRHPA QLANGGLKRR * | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2463 / 2463 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 821 / 821 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 3212 / 3212 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 750 / 750 | ||||||||||||||||
| Last intron/exon boundary | 3035 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2235 | ||||||||||||||||
| Length of CDS | 2463 | ||||||||||||||||
| Coding sequence (CDS) position | 1337 | ||||||||||||||||
| cDNA position | 2086 | ||||||||||||||||
| gDNA position | 50520 | ||||||||||||||||
| Chromosomal position | 38418315 | ||||||||||||||||
| Speed | 0.05 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | |||||||||||||
| Gene symbol | FGFR1 | |||||||||||||
| Gene constraints | LOEUF: 0.24, LOF (oe): 0.15, misssense (oe): 0.64, synonymous (oe): 1.01 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000341462.9 | |||||||||||||
| Genbank transcript ID | NM_001354370 (by similarity), NM_001354367 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1331G>A g.50520G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDFHSQM AVHKLAKSIP LRRQVSADSS ASMNSGVLLV RPSRLSSSGT PMLAGVSEYE LPEDPRWELP RDRLVLGKPL GEGCFGQVVL AEAIGLDKDK PNRVTKVAVK MLKSDATEKD LSDLISEMEM MKMIGKHKNI INLLGACTQD GPLYVIVEYA SKGNLREYLQ ARRPPGLEYC YNPSHNPEEQ LSSKDLVSCA YQVARGMEYL ASKKCIHRDL AARNVLVTED NVMKIADFGL ARDIHHIDYY KKTTNGRLPV KWMAPEALFD RIYTHQSDVW SFGVLLWEIF TLGGSPYPGV PVEELFKLLK EGHRMDKPSN CTNELYMMMR DCWHAVPSQR PTFKQLVEDL DRIVALTSNQ VLHPDLTTHL LPLRCFWKVR KRRCLLRGQE PHPCSRGAGQ RVKAQQPSTM DGFLQGNRWG WAGEGAPT* | |||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDFHSQM AVHKLAKSIP LRRQVSADSS ASMNSGVLLV RPSQLSSSGT PMLAGVSEYE LPEDPRWELP RDRLVLGKPL GEGCFGQVVL AEAIGLDKDK PNRVTKVAVK MLKSDATEKD LSDLISEMEM MKMIGKHKNI INLLGACTQD GPLYVIVEYA SKGNLREYLQ ARRPPGLEYC YNPSHNPEEQ LSSKDLVSCA YQVARGMEYL ASKKCIHRDL AARNVLVTED NVMKIADFGL ARDIHHIDYY KKTTNGRLPV KWMAPEALFD RIYTHQSDVW SFGVLLWEIF TLGGSPYPGV PVEELFKLLK EGHRMDKPSN CTNELYMMMR DCWHAVPSQR PTFKQLVEDL DRIVALTSNQ VLHPDLTTHL LPLRCFWKVR KRRCLLRGQE PHPCSRGAGQ RVKAQQPSTM DGFLQGNRWG WAGEGAPT* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2487 / 2487 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 829 / 829 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3196 / 3196 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 710 / 710 | |||||||||||||
| Last intron/exon boundary | 2989 | |||||||||||||
| Theoretical NMD boundary in CDS | 2229 | |||||||||||||
| Length of CDS | 2487 | |||||||||||||
| Coding sequence (CDS) position | 1331 | |||||||||||||
| cDNA position | 2040 | |||||||||||||
| gDNA position | 50520 | |||||||||||||
| Chromosomal position | 38418315 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | |||||||||||||
| Gene symbol | FGFR1 | |||||||||||||
| Gene constraints | LOEUF: 0.24, LOF (oe): 0.15, misssense (oe): 0.64, synonymous (oe): 1.01 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000425967.8 | |||||||||||||
| Genbank transcript ID | NM_001354369 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1331G>A g.50520G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDFHSQM AVHKLAKSIP LRRQVSADSS ASMNSGVLLV RPSRLSSSGT PMLAGVSEYE LPEDPRWELP RDRLVLGKPL GEGCFGQVVL AEAIGLDKDK PNRVTKVAVK MLKSDATEKD LSDLISEMEM MKMIGKHKNI INLLGACTQD GPLYVIVEYA SKGNLREYLQ ARRPPGLEYC YNPSHNPEEQ LSSKDLVSCA YQVARGMEYL ASKKCIHRDL AARNVLVTED NVMKIADFGL ARDIHHIDYY KKTTNGRLPV KWMAPEALFD RIYTHQSDVW SFGVLLWEIF TLGGSPYPGV PVEELFKLLK EGHRMDKPSN CTNELYMMMR DCWHAVPSQR PTFKQLVEDL DRIVALTSNQ VLHPDLTTHL LPLRCFWKVR KRRCLLRGQE PHPCSRGAGQ RVKAQQPSTM DGFLQGNRWG WAGEGAPT* | |||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDFHSQM AVHKLAKSIP LRRQVSADSS ASMNSGVLLV RPSQLSSSGT PMLAGVSEYE LPEDPRWELP RDRLVLGKPL GEGCFGQVVL AEAIGLDKDK PNRVTKVAVK MLKSDATEKD LSDLISEMEM MKMIGKHKNI INLLGACTQD GPLYVIVEYA SKGNLREYLQ ARRPPGLEYC YNPSHNPEEQ LSSKDLVSCA YQVARGMEYL ASKKCIHRDL AARNVLVTED NVMKIADFGL ARDIHHIDYY KKTTNGRLPV KWMAPEALFD RIYTHQSDVW SFGVLLWEIF TLGGSPYPGV PVEELFKLLK EGHRMDKPSN CTNELYMMMR DCWHAVPSQR PTFKQLVEDL DRIVALTSNQ VLHPDLTTHL LPLRCFWKVR KRRCLLRGQE PHPCSRGAGQ RVKAQQPSTM DGFLQGNRWG WAGEGAPT* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2487 / 2487 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 829 / 829 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2605 / 2605 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 119 / 119 | |||||||||||||
| Last intron/exon boundary | 2398 | |||||||||||||
| Theoretical NMD boundary in CDS | 2229 | |||||||||||||
| Length of CDS | 2487 | |||||||||||||
| Coding sequence (CDS) position | 1331 | |||||||||||||
| cDNA position | 1449 | |||||||||||||
| gDNA position | 50520 | |||||||||||||
| Chromosomal position | 38418315 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | |||||||||||||
| Gene symbol | FGFR1 | |||||||||||||
| Gene constraints | LOEUF: 0.26, LOF (oe): 0.17, misssense (oe): 0.65, synonymous (oe): 1.01 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000683765.1 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1523G>A g.50520G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK VIMAPVFVGQ STGKETTVSG AQVPVGRLSC PRMGSFLTLQ AHTLHLSRDL ATSPRTSNRG HKVETAGVNT TDKEMEVLHL RNVSFEDAGE YTCLAGNSIG LSHHSAWLTV LEALEERPAV MTSPLYLEII IYCTGAFLIS CMVGSVIVYK MKSGTKKSDF HSQMAVHKLA KSIPLRRQVS ADSSASMNSG VLLVRPSRLS SSGTPMLAGV SEYELPEDPR WELPRDRLVL GKPLGEGCFG QVVLAEAIGL DKDKPNRVTK VAVKMLKSDA TEKDLSDLIS EMEMMKMIGK HKNIINLLGA CTQDGPLYVI VEYASKGNLR EYLQARRPPG LEYCYNPSHN PEEQLSSKDL VSCAYQVARG MEYLASKKCI HRDLAARNVL VTEDNVMKIA DFGLARDIHH IDYYKKTTNG RLPVKWMAPE ALFDRIYTHQ SDVWSFGVLL WEIFTLGGSP YPGVPVEELF KLLKEGHRMD KPSNCTNELY MMMRDCWHAV PSQRPTFKQL VEDLDRIVAL TSNQVLHPDL TTHLLPLRCF WKVRKRRCLL RGQEPHPCSR GAGQRVKAQQ PSTMDGFLQG NRWGWAGEGA PT* | |||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK VIMAPVFVGQ STGKETTVSG AQVPVGRLSC PRMGSFLTLQ AHTLHLSRDL ATSPRTSNRG HKVETAGVNT TDKEMEVLHL RNVSFEDAGE YTCLAGNSIG LSHHSAWLTV LEALEERPAV MTSPLYLEII IYCTGAFLIS CMVGSVIVYK MKSGTKKSDF HSQMAVHKLA KSIPLRRQVS ADSSASMNSG VLLVRPSQLS SSGTPMLAGV SEYELPEDPR WELPRDRLVL GKPLGEGCFG QVVLAEAIGL DKDKPNRVTK VAVKMLKSDA TEKDLSDLIS EMEMMKMIGK HKNIINLLGA CTQDGPLYVI VEYASKGNLR EYLQARRPPG LEYCYNPSHN PEEQLSSKDL VSCAYQVARG MEYLASKKCI HRDLAARNVL VTEDNVMKIA DFGLARDIHH IDYYKKTTNG RLPVKWMAPE ALFDRIYTHQ SDVWSFGVLL WEIFTLGGSP YPGVPVEELF KLLKEGHRMD KPSNCTNELY MMMRDCWHAV PSQRPTFKQL VEDLDRIVAL TSNQVLHPDL TTHLLPLRCF WKVRKRRCLL RGQEPHPCSR GAGQRVKAQQ PSTMDGFLQG NRWGWAGEGA PT* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2679 / 2679 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 893 / 893 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3388 / 3388 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 710 / 710 | |||||||||||||
| Last intron/exon boundary | 3181 | |||||||||||||
| Theoretical NMD boundary in CDS | 2421 | |||||||||||||
| Length of CDS | 2679 | |||||||||||||
| Coding sequence (CDS) position | 1523 | |||||||||||||
| cDNA position | 2232 | |||||||||||||
| gDNA position | 50520 | |||||||||||||
| Chromosomal position | 38418315 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | ||||||||||||||||
| Gene symbol | FGFR1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.25, LOF (oe): 0.16, misssense (oe): 0.65, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000397113.6 | ||||||||||||||||
| Genbank transcript ID | NM_001174065 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | FGFR1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.1337G>A g.50520G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 8 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDFHSQM AVHKLAKSIP LRRQVTVSAD SSASMNSGVL LVRPSRLSSS GTPMLAGVSE YELPEDPRWE LPRDRLVLGK PLGEGCFGQV VLAEAIGLDK DKPNRVTKVA VKMLKSDATE KDLSDLISEM EMMKMIGKHK NIINLLGACT QDGPLYVIVE YASKGNLREY LQARRPPGLE YCYNPSHNPE EQLSSKDLVS CAYQVARGME YLASKKCIHR DLAARNVLVT EDNVMKIADF GLARDIHHID YYKKTTNGRL PVKWMAPEAL FDRIYTHQSD VWSFGVLLWE IFTLGGSPYP GVPVEELFKL LKEGHRMDKP SNCTNELYMM MRDCWHAVPS QRPTFKQLVE DLDRIVALTS NQEYLDLSMP LDQYSPSFPD TRSSTCSSGE DSVFSHEPLP EEPCLPRHPA QLANGGLKRR * | ||||||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDFHSQM AVHKLAKSIP LRRQVTVSAD SSASMNSGVL LVRPSQLSSS GTPMLAGVSE YELPEDPRWE LPRDRLVLGK PLGEGCFGQV VLAEAIGLDK DKPNRVTKVA VKMLKSDATE KDLSDLISEM EMMKMIGKHK NIINLLGACT QDGPLYVIVE YASKGNLREY LQARRPPGLE YCYNPSHNPE EQLSSKDLVS CAYQVARGME YLASKKCIHR DLAARNVLVT EDNVMKIADF GLARDIHHID YYKKTTNGRL PVKWMAPEAL FDRIYTHQSD VWSFGVLLWE IFTLGGSPYP GVPVEELFKL LKEGHRMDKP SNCTNELYMM MRDCWHAVPS QRPTFKQLVE DLDRIVALTS NQEYLDLSMP LDQYSPSFPD TRSSTCSSGE DSVFSHEPLP EEPCLPRHPA QLANGGLKRR * | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2463 / 2463 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 821 / 821 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2780 / 2780 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 318 / 318 | ||||||||||||||||
| Last intron/exon boundary | 2603 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2235 | ||||||||||||||||
| Length of CDS | 2463 | ||||||||||||||||
| Coding sequence (CDS) position | 1337 | ||||||||||||||||
| cDNA position | 1654 | ||||||||||||||||
| gDNA position | 50520 | ||||||||||||||||
| Chromosomal position | 38418315 | ||||||||||||||||
| Speed | 0.04 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | |||||||||||||||||||||
| Gene symbol | FGFR1 | |||||||||||||||||||||
| Gene constraints | LOEUF: 0.26, LOF (oe): 0.17, misssense (oe): 0.62, synonymous (oe): 0.99 (gnomAD) | |||||||||||||||||||||
| Ensembl transcript ID | ENST00000356207.9 | |||||||||||||||||||||
| Genbank transcript ID | NM_023105 (by similarity), NM_001174066 (by similarity) | |||||||||||||||||||||
| UniProt / AlphaMissense peptide | FGFR1_HUMAN | AlphaMissense: transcript, gene | |||||||||||||||||||||
| Variant type | Single base exchange | |||||||||||||||||||||
| Gene region | CDS | |||||||||||||||||||||
| DNA changes | c.1076G>A g.50520G>A | |||||||||||||||||||||
| AA changes |
| |||||||||||||||||||||
| Frameshift | No | |||||||||||||||||||||
| Length of protein | Normal | |||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||||||||||
| Variant DBs |
| |||||||||||||||||||||
| Protein conservation | ||||||||||||||||||||||
| Protein features |
| |||||||||||||||||||||
| Phylogenetic conservation |
| |||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||||||||||
| Distance from splice site | N/A | |||||||||||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||||||||||
| poly(A) signal | N/A | |||||||||||||||||||||
| AA sequence altered | Yes | |||||||||||||||||||||
| Chromosome | 8 | |||||||||||||||||||||
| Strand | -1 | |||||||||||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ DALPSSEDDD DDDDSSSEEK ETDNTKPNRM PVAPYWTSPE KMEKKLHAVP AAKTVKFKCP SSGTPNPTLR WLKNGKEFKP DHRIGGYKVR YATWSIIMDS VVPSDKGNYT CIVENEYGSI NHTYQLDVVE RSPHRPILQA GLPANKTVAL GSNVEFMCKV YSDPQPHIQW LKHIEVNGSK IGPDNLPYVQ ILKTAGVNTT DKEMEVLHLR NVSFEDAGEY TCLAGNSIGL SHHSAWLTVL EALEERPAVM TSPLYLEIII YCTGAFLISC MVGSVIVYKM KSGTKKSDFH SQMAVHKLAK SIPLRRQVTV SADSSASMNS GVLLVRPSRL SSSGTPMLAG VSEYELPEDP RWELPRDRLV LGKPLGEGCF GQVVLAEAIG LDKDKPNRVT KVAVKMLKSD ATEKDLSDLI SEMEMMKMIG KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLQARRPP GLEYCYNPSH NPEEQLSSKD LVSCAYQVAR GMEYLASKKC IHRDLAARNV LVTEDNVMKI ADFGLARDIH HIDYYKKTTN GRLPVKWMAP EALFDRIYTH QSDVWSFGVL LWEIFTLGGS PYPGVPVEEL FKLLKEGHRM DKPSNCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRIVA LTSNQEYLDL SMPLDQYSPS FPDTRSSTCS SGEDSVFSHE PLPEEPCLPR HPAQLANGGL KRR* | |||||||||||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ DALPSSEDDD DDDDSSSEEK ETDNTKPNRM PVAPYWTSPE KMEKKLHAVP AAKTVKFKCP SSGTPNPTLR WLKNGKEFKP DHRIGGYKVR YATWSIIMDS VVPSDKGNYT CIVENEYGSI NHTYQLDVVE RSPHRPILQA GLPANKTVAL GSNVEFMCKV YSDPQPHIQW LKHIEVNGSK IGPDNLPYVQ ILKTAGVNTT DKEMEVLHLR NVSFEDAGEY TCLAGNSIGL SHHSAWLTVL EALEERPAVM TSPLYLEIII YCTGAFLISC MVGSVIVYKM KSGTKKSDFH SQMAVHKLAK SIPLRRQVTV SADSSASMNS GVLLVRPSQL SSSGTPMLAG VSEYELPEDP RWELPRDRLV LGKPLGEGCF GQVVLAEAIG LDKDKPNRVT KVAVKMLKSD ATEKDLSDLI SEMEMMKMIG KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLQARRPP GLEYCYNPSH NPEEQLSSKD LVSCAYQVAR GMEYLASKKC IHRDLAARNV LVTEDNVMKI ADFGLARDIH HIDYYKKTTN GRLPVKWMAP EALFDRIYTH QSDVWSFGVL LWEIFTLGGS PYPGVPVEEL FKLLKEGHRM DKPSNCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRIVA LTSNQEYLDL SMPLDQYSPS FPDTRSSTCS SGEDSVFSHE PLPEEPCLPR HPAQLANGGL KRR* | |||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2202 / 2202 | |||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 734 / 734 | |||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2926 / 2926 | |||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 725 / 725 | |||||||||||||||||||||
| Last intron/exon boundary | 2749 | |||||||||||||||||||||
| Theoretical NMD boundary in CDS | 1974 | |||||||||||||||||||||
| Length of CDS | 2202 | |||||||||||||||||||||
| Coding sequence (CDS) position | 1076 | |||||||||||||||||||||
| cDNA position | 1800 | |||||||||||||||||||||
| gDNA position | 50520 | |||||||||||||||||||||
| Chromosomal position | 38418315 | |||||||||||||||||||||
| Speed | 0.04 s | |||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | ||||||||||||||||||||||||||
| Gene symbol | FGFR1 | ||||||||||||||||||||||||||
| Gene constraints | LOEUF: 0.23, LOF (oe): 0.14, misssense (oe): 0.62, synonymous (oe): 0.99 (gnomAD) | ||||||||||||||||||||||||||
| Ensembl transcript ID | ENST00000326324.10 | ||||||||||||||||||||||||||
| Genbank transcript ID | NM_023106 (by similarity) | ||||||||||||||||||||||||||
| UniProt / AlphaMissense peptide | FGFR1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||||||||||||
| Gene region | CDS | ||||||||||||||||||||||||||
| DNA changes | c.1070G>A g.50520G>A | ||||||||||||||||||||||||||
| AA changes |
| ||||||||||||||||||||||||||
| Frameshift | No | ||||||||||||||||||||||||||
| Length of protein | Normal | ||||||||||||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||||||||||||
| Variant DBs |
| ||||||||||||||||||||||||||
| Protein conservation | |||||||||||||||||||||||||||
| Protein features |
| ||||||||||||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||||||||||||
| Chromosome | 8 | ||||||||||||||||||||||||||
| Strand | -1 | ||||||||||||||||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ DALPSSEDDD DDDDSSSEEK ETDNTKPNPV APYWTSPEKM EKKLHAVPAA KTVKFKCPSS GTPNPTLRWL KNGKEFKPDH RIGGYKVRYA TWSIIMDSVV PSDKGNYTCI VENEYGSINH TYQLDVVERS PHRPILQAGL PANKTVALGS NVEFMCKVYS DPQPHIQWLK HIEVNGSKIG PDNLPYVQIL KTAGVNTTDK EMEVLHLRNV SFEDAGEYTC LAGNSIGLSH HSAWLTVLEA LEERPAVMTS PLYLEIIIYC TGAFLISCMV GSVIVYKMKS GTKKSDFHSQ MAVHKLAKSI PLRRQVTVSA DSSASMNSGV LLVRPSRLSS SGTPMLAGVS EYELPEDPRW ELPRDRLVLG KPLGEGCFGQ VVLAEAIGLD KDKPNRVTKV AVKMLKSDAT EKDLSDLISE MEMMKMIGKH KNIINLLGAC TQDGPLYVIV EYASKGNLRE YLQARRPPGL EYCYNPSHNP EEQLSSKDLV SCAYQVARGM EYLASKKCIH RDLAARNVLV TEDNVMKIAD FGLARDIHHI DYYKKTTNGR LPVKWMAPEA LFDRIYTHQS DVWSFGVLLW EIFTLGGSPY PGVPVEELFK LLKEGHRMDK PSNCTNELYM MMRDCWHAVP SQRPTFKQLV EDLDRIVALT SNQEYLDLSM PLDQYSPSFP DTRSSTCSSG EDSVFSHEPL PEEPCLPRHP AQLANGGLKR R* | ||||||||||||||||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ DALPSSEDDD DDDDSSSEEK ETDNTKPNPV APYWTSPEKM EKKLHAVPAA KTVKFKCPSS GTPNPTLRWL KNGKEFKPDH RIGGYKVRYA TWSIIMDSVV PSDKGNYTCI VENEYGSINH TYQLDVVERS PHRPILQAGL PANKTVALGS NVEFMCKVYS DPQPHIQWLK HIEVNGSKIG PDNLPYVQIL KTAGVNTTDK EMEVLHLRNV SFEDAGEYTC LAGNSIGLSH HSAWLTVLEA LEERPAVMTS PLYLEIIIYC TGAFLISCMV GSVIVYKMKS GTKKSDFHSQ MAVHKLAKSI PLRRQVTVSA DSSASMNSGV LLVRPSQLSS SGTPMLAGVS EYELPEDPRW ELPRDRLVLG KPLGEGCFGQ VVLAEAIGLD KDKPNRVTKV AVKMLKSDAT EKDLSDLISE MEMMKMIGKH KNIINLLGAC TQDGPLYVIV EYASKGNLRE YLQARRPPGL EYCYNPSHNP EEQLSSKDLV SCAYQVARGM EYLASKKCIH RDLAARNVLV TEDNVMKIAD FGLARDIHHI DYYKKTTNGR LPVKWMAPEA LFDRIYTHQS DVWSFGVLLW EIFTLGGSPY PGVPVEELFK LLKEGHRMDK PSNCTNELYM MMRDCWHAVP SQRPTFKQLV EDLDRIVALT SNQEYLDLSM PLDQYSPSFP DTRSSTCSSG EDSVFSHEPL PEEPCLPRHP AQLANGGLKR R* | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2196 / 2196 | ||||||||||||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 732 / 732 | ||||||||||||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2920 / 2920 | ||||||||||||||||||||||||||
| Position of start ATG in wt / mu cDNA | 725 / 725 | ||||||||||||||||||||||||||
| Last intron/exon boundary | 2743 | ||||||||||||||||||||||||||
| Theoretical NMD boundary in CDS | 1968 | ||||||||||||||||||||||||||
| Length of CDS | 2196 | ||||||||||||||||||||||||||
| Coding sequence (CDS) position | 1070 | ||||||||||||||||||||||||||
| cDNA position | 1794 | ||||||||||||||||||||||||||
| gDNA position | 50520 | ||||||||||||||||||||||||||
| Chromosomal position | 38418315 | ||||||||||||||||||||||||||
| Speed | 0.04 s | ||||||||||||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | |||||||||||||
| Gene symbol | FGFR1 | |||||||||||||
| Gene constraints | LOEUF: 0.26, LOF (oe): 0.17, misssense (oe): 0.65, synonymous (oe): 1.00 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000683815.1 | |||||||||||||
| Genbank transcript ID | NM_001410922 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1331G>A g.50520G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDFHSQM AVHKLAKSIP LRRQVSADSS ASMNSGVLLV RPSRLSSSGT PMLAGVSEYE LPEDPRWELP RDRLVLGKPL GEGCFGQVVL AEAIGLDKDK PNRVTKVAVK MLKSDATEKD LSDLISEMEM MKMIGKHKNI INLLGACTQD GPLYVIVEYA SKGNLREYLQ ARRPPGLEYC YNPSHNPEEQ LSSKDLVSCA YQVARGMEYL ASKKCIHRDL AARNVLVTED NVMKIADFGL ARDIHHIDYY KKTTNGRLPV KWMAPEALFD RIYTHQSDVW SFGVLLWEIF TLGGSPYPGV PVEELFKLLK EGHRMDKPSN CTNELYMMMR DCWHAVPSQR PTFKQLVEDL DRIVALTSNQ EYLDLSMPLD QYSPSFPDTR SSTCSSGEDS VFSHEPLPEE PCLPRHPAQL ANGGLKRR* | |||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDFHSQM AVHKLAKSIP LRRQVSADSS ASMNSGVLLV RPSQLSSSGT PMLAGVSEYE LPEDPRWELP RDRLVLGKPL GEGCFGQVVL AEAIGLDKDK PNRVTKVAVK MLKSDATEKD LSDLISEMEM MKMIGKHKNI INLLGACTQD GPLYVIVEYA SKGNLREYLQ ARRPPGLEYC YNPSHNPEEQ LSSKDLVSCA YQVARGMEYL ASKKCIHRDL AARNVLVTED NVMKIADFGL ARDIHHIDYY KKTTNGRLPV KWMAPEALFD RIYTHQSDVW SFGVLLWEIF TLGGSPYPGV PVEELFKLLK EGHRMDKPSN CTNELYMMMR DCWHAVPSQR PTFKQLVEDL DRIVALTSNQ EYLDLSMPLD QYSPSFPDTR SSTCSSGEDS VFSHEPLPEE PCLPRHPAQL ANGGLKRR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2457 / 2457 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 819 / 819 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 3198 / 3198 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 742 / 742 | |||||||||||||
| Last intron/exon boundary | 3021 | |||||||||||||
| Theoretical NMD boundary in CDS | 2229 | |||||||||||||
| Length of CDS | 2457 | |||||||||||||
| Coding sequence (CDS) position | 1331 | |||||||||||||
| cDNA position | 2072 | |||||||||||||
| gDNA position | 50520 | |||||||||||||
| Chromosomal position | 38418315 | |||||||||||||
| Speed | 0.05 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | |||||||||||||
| Gene symbol | FGFR1 | |||||||||||||
| Gene constraints | LOEUF: 0.24, LOF (oe): 0.15, misssense (oe): 0.62, synonymous (oe): 1.00 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000684654.1 | |||||||||||||
| Genbank transcript ID | NM_001354368 (by similarity) | |||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1064G>A g.50520G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ DALPSSEDDD DDDDSSSEEK ETDNTKPNPV APYWTSPEKM EKKLHAVPAA KTVKFKCPSS GTPNPTLRWL KNGKEFKPDH RIGGYKVRYA TWSIIMDSVV PSDKGNYTCI VENEYGSINH TYQLDVVERS PHRPILQAGL PANKTVALGS NVEFMCKVYS DPQPHIQWLK HIEVNGSKIG PDNLPYVQIL KTAGVNTTDK EMEVLHLRNV SFEDAGEYTC LAGNSIGLSH HSAWLTVLEA LEERPAVMTS PLYLEIIIYC TGAFLISCMV GSVIVYKMKS GTKKSDFHSQ MAVHKLAKSI PLRRQVSADS SASMNSGVLL VRPSRLSSSG TPMLAGVSEY ELPEDPRWEL PRDRLVLGKP LGEGCFGQVV LAEAIGLDKD KPNRVTKVAV KMLKSDATEK DLSDLISEME MMKMIGKHKN IINLLGACTQ DGPLYVIVEY ASKGNLREYL QARRPPGLEY CYNPSHNPEE QLSSKDLVSC AYQVARGMEY LASKKCIHRD LAARNVLVTE DNVMKIADFG LARDIHHIDY YKKTTNGRLP VKWMAPEALF DRIYTHQSDV WSFGVLLWEI FTLGGSPYPG VPVEELFKLL KEGHRMDKPS NCTNELYMMM RDCWHAVPSQ RPTFKQLVED LDRIVALTSN QEYLDLSMPL DQYSPSFPDT RSSTCSSGED SVFSHEPLPE EPCLPRHPAQ LANGGLKRR* | |||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ DALPSSEDDD DDDDSSSEEK ETDNTKPNPV APYWTSPEKM EKKLHAVPAA KTVKFKCPSS GTPNPTLRWL KNGKEFKPDH RIGGYKVRYA TWSIIMDSVV PSDKGNYTCI VENEYGSINH TYQLDVVERS PHRPILQAGL PANKTVALGS NVEFMCKVYS DPQPHIQWLK HIEVNGSKIG PDNLPYVQIL KTAGVNTTDK EMEVLHLRNV SFEDAGEYTC LAGNSIGLSH HSAWLTVLEA LEERPAVMTS PLYLEIIIYC TGAFLISCMV GSVIVYKMKS GTKKSDFHSQ MAVHKLAKSI PLRRQVSADS SASMNSGVLL VRPSQLSSSG TPMLAGVSEY ELPEDPRWEL PRDRLVLGKP LGEGCFGQVV LAEAIGLDKD KPNRVTKVAV KMLKSDATEK DLSDLISEME MMKMIGKHKN IINLLGACTQ DGPLYVIVEY ASKGNLREYL QARRPPGLEY CYNPSHNPEE QLSSKDLVSC AYQVARGMEY LASKKCIHRD LAARNVLVTE DNVMKIADFG LARDIHHIDY YKKTTNGRLP VKWMAPEALF DRIYTHQSDV WSFGVLLWEI FTLGGSPYPG VPVEELFKLL KEGHRMDKPS NCTNELYMMM RDCWHAVPSQ RPTFKQLVED LDRIVALTSN QEYLDLSMPL DQYSPSFPDT RSSTCSSGED SVFSHEPLPE EPCLPRHPAQ LANGGLKRR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2190 / 2190 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 730 / 730 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2931 / 2931 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 742 / 742 | |||||||||||||
| Last intron/exon boundary | 2754 | |||||||||||||
| Theoretical NMD boundary in CDS | 1962 | |||||||||||||
| Length of CDS | 2190 | |||||||||||||
| Coding sequence (CDS) position | 1064 | |||||||||||||
| cDNA position | 1805 | |||||||||||||
| gDNA position | 50520 | |||||||||||||
| Chromosomal position | 38418315 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | |||||||||||||
| Gene symbol | FGFR1 | |||||||||||||
| Gene constraints | LOEUF: 0.24, LOF (oe): 0.15, misssense (oe): 0.63, synonymous (oe): 1.00 (gnomAD) | |||||||||||||
| Ensembl transcript ID | ENST00000397103.5 | |||||||||||||
| Genbank transcript ID | ||||||||||||||
| UniProt / AlphaMissense peptide | N/A | |||||||||||||
| Variant type | Single base exchange | |||||||||||||
| Gene region | CDS | |||||||||||||
| DNA changes | c.1076G>A g.50520G>A | |||||||||||||
| AA changes |
| |||||||||||||
| Frameshift | No | |||||||||||||
| Length of protein | Normal | |||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | |||||||||||||
| Variant DBs |
| |||||||||||||
| Protein conservation | ||||||||||||||
| Protein features | N/A | |||||||||||||
| Phylogenetic conservation |
| |||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | |||||||||||||
| Distance from splice site | N/A | |||||||||||||
| Kozak consensus sequence altered? | No | |||||||||||||
| poly(A) signal | N/A | |||||||||||||
| AA sequence altered | Yes | |||||||||||||
| Chromosome | 8 | |||||||||||||
| Strand | -1 | |||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | |||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ DALPSSEDDD DDDDSSSEEK ETDNTKPNPV APYWTSPEKM EKKLHAVPAA KTVKFKCPSS GTPNPTLRWL KNGKEFKPDH RIGGYKVRYA TWSIIMDSVV PSDKGNYTCI VENEYGSINH TYQLDVVERS PHRPILQAGL PANKTVALGS NVEFMCKVYS DPQPHIQWLK HIEVNGSKIG PDNLPYVQIL KHSGINSSDA EVLTLFNVTE AQSGEYVCKV SNYIGEANQS AWLTVTRPVA KALEERPAVM TSPLYLEIII YCTGAFLISC MVGSVIVYKM KSGTKKSDFH SQMAVHKLAK SIPLRRQVTV SADSSASMNS GVLLVRPSRL SSSGTPMLAG VSEYELPEDP RWELPRDRLV LGKPLGEGCF GQVVLAEAIG LDKDKPNRVT KVAVKMLKSD ATEKDLSDLI SEMEMMKMIG KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLQARRPP GLEYCYNPSH NPEEQLSSKD LVSCAYQVAR GMEYLASKKC IHRDLAARNV LVTEDNVMKI ADFGLARDIH HIDYYKKTTN GRLPVKWMAP EALFDRIYTH QSDVWSFGVL LWEIFTLGGS PYPGVPVEEL FKLLKEGHRM DKPSNCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRIVA LTSNQEYLDL SMPLDQYSPS FPDTRSSTCS SGEDSVFSHE PLPEEPCLPR HPAQLANGGL KRR* | |||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ DALPSSEDDD DDDDSSSEEK ETDNTKPNPV APYWTSPEKM EKKLHAVPAA KTVKFKCPSS GTPNPTLRWL KNGKEFKPDH RIGGYKVRYA TWSIIMDSVV PSDKGNYTCI VENEYGSINH TYQLDVVERS PHRPILQAGL PANKTVALGS NVEFMCKVYS DPQPHIQWLK HIEVNGSKIG PDNLPYVQIL KHSGINSSDA EVLTLFNVTE AQSGEYVCKV SNYIGEANQS AWLTVTRPVA KALEERPAVM TSPLYLEIII YCTGAFLISC MVGSVIVYKM KSGTKKSDFH SQMAVHKLAK SIPLRRQVTV SADSSASMNS GVLLVRPSQL SSSGTPMLAG VSEYELPEDP RWELPRDRLV LGKPLGEGCF GQVVLAEAIG LDKDKPNRVT KVAVKMLKSD ATEKDLSDLI SEMEMMKMIG KHKNIINLLG ACTQDGPLYV IVEYASKGNL REYLQARRPP GLEYCYNPSH NPEEQLSSKD LVSCAYQVAR GMEYLASKKC IHRDLAARNV LVTEDNVMKI ADFGLARDIH HIDYYKKTTN GRLPVKWMAP EALFDRIYTH QSDVWSFGVL LWEIFTLGGS PYPGVPVEEL FKLLKEGHRM DKPSNCTNEL YMMMRDCWHA VPSQRPTFKQ LVEDLDRIVA LTSNQEYLDL SMPLDQYSPS FPDTRSSTCS SGEDSVFSHE PLPEEPCLPR HPAQLANGGL KRR* | |||||||||||||
| Position of stopcodon in wt / mu CDS | 2202 / 2202 | |||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 734 / 734 | |||||||||||||
| Position of stopcodon in wt / mu cDNA | 2259 / 2259 | |||||||||||||
| Position of start ATG in wt / mu cDNA | 58 / 58 | |||||||||||||
| Last intron/exon boundary | 2082 | |||||||||||||
| Theoretical NMD boundary in CDS | 1974 | |||||||||||||
| Length of CDS | 2202 | |||||||||||||
| Coding sequence (CDS) position | 1076 | |||||||||||||
| cDNA position | 1133 | |||||||||||||
| gDNA position | 50520 | |||||||||||||
| Chromosomal position | 38418315 | |||||||||||||
| Speed | 0.04 s | |||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
| Analysed issue | Analysis result | ||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Variant | Chr8:38418315C>T (GRCh38) | ||||||||||||||||
| Gene symbol | FGFR1 | ||||||||||||||||
| Gene constraints | LOEUF: 0.25, LOF (oe): 0.16, misssense (oe): 0.65, synonymous (oe): 1.00 (gnomAD) | ||||||||||||||||
| Ensembl transcript ID | ENST00000397108.8 | ||||||||||||||||
| Genbank transcript ID | NM_001174067 (by similarity) | ||||||||||||||||
| UniProt / AlphaMissense peptide | FGFR1_HUMAN | AlphaMissense: transcript, gene | ||||||||||||||||
| Variant type | Single base exchange | ||||||||||||||||
| Gene region | CDS | ||||||||||||||||
| DNA changes | c.1337G>A g.50520G>A | ||||||||||||||||
| AA changes |
| ||||||||||||||||
| Frameshift | No | ||||||||||||||||
| Length of protein | Normal | ||||||||||||||||
| Pathogenic variant (ClinVar) | Variant not listed in ClinVar as (likely) pathogenic. | ||||||||||||||||
| Variant DBs |
| ||||||||||||||||
| Protein conservation | |||||||||||||||||
| Protein features |
| ||||||||||||||||
| Phylogenetic conservation |
| ||||||||||||||||
| Splice sites | No abrogation of potential splice sites predicted by MaxEntScan. | ||||||||||||||||
| Distance from splice site | N/A | ||||||||||||||||
| Kozak consensus sequence altered? | No | ||||||||||||||||
| poly(A) signal | N/A | ||||||||||||||||
| AA sequence altered | Yes | ||||||||||||||||
| Chromosome | 8 | ||||||||||||||||
| Strand | -1 | ||||||||||||||||
| Original gDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Altered gDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Original cDNA sequence snippet | TCTTCTGGTTCGGCCATCACGGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Altered cDNA sequence snippet | TCTTCTGGTTCGGCCATCACAGCTCTCCTCCAGTGGGACTC | ||||||||||||||||
| Wildtype AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDFHSQM AVHKLAKSIP LRRQVTVSAD SSASMNSGVL LVRPSRLSSS GTPMLAGVSE YELPEDPRWE LPRDRLVLGK PLGEGCFGQV VLAEAIGLDK DKPNRVTKVA VKMLKSDATE KDLSDLISEM EMMKMIGKHK NIINLLGACT QDGPLYVIVE YASKGNLREY LQARRPPGLE YCYNPSHNPE EQLSSKDLVS CAYQVARGME YLASKKCIHR DLAARNVLVT EDNVMKIADF GLARDIHHID YYKKTTNGRL PVKWMAPEAL FDRIYTHQSD VWSFGVLLWE IFTLGGSPYP GVPVEELFKL LKEGHRMDKP SNCTNELYMM MRDCWHAVPS QRPTFKQLVE DLDRIVALTS NQEYLDLSMP LDQYSPSFPD TRSSTCSSGE DSVFSHEPLP EEPCLPRHPA QLANGGLKRR * | ||||||||||||||||
| Mutated AA sequence | MWSWKCLLFW AVLVTATLCT ARPSPTLPEQ AQPWGAPVEV ESFLVHPGDL LQLRCRLRDD VQSINWLRDG VQLAESNRTR ITGEEVEVQD SVPADSGLYA CVTSSPSGSD TTYFSVNVSD ALPSSEDDDD DDDSSSEEKE TDNTKPNPVA PYWTSPEKME KKLHAVPAAK TVKFKCPSSG TPNPTLRWLK NGKEFKPDHR IGGYKVRYAT WSIIMDSVVP SDKGNYTCIV ENEYGSINHT YQLDVVERSP HRPILQAGLP ANKTVALGSN VEFMCKVYSD PQPHIQWLKH IEVNGSKIGP DNLPYVQILK TAGVNTTDKE MEVLHLRNVS FEDAGEYTCL AGNSIGLSHH SAWLTVLEAL EERPAVMTSP LYLEIIIYCT GAFLISCMVG SVIVYKMKSG TKKSDFHSQM AVHKLAKSIP LRRQVTVSAD SSASMNSGVL LVRPSQLSSS GTPMLAGVSE YELPEDPRWE LPRDRLVLGK PLGEGCFGQV VLAEAIGLDK DKPNRVTKVA VKMLKSDATE KDLSDLISEM EMMKMIGKHK NIINLLGACT QDGPLYVIVE YASKGNLREY LQARRPPGLE YCYNPSHNPE EQLSSKDLVS CAYQVARGME YLASKKCIHR DLAARNVLVT EDNVMKIADF GLARDIHHID YYKKTTNGRL PVKWMAPEAL FDRIYTHQSD VWSFGVLLWE IFTLGGSPYP GVPVEELFKL LKEGHRMDKP SNCTNELYMM MRDCWHAVPS QRPTFKQLVE DLDRIVALTS NQEYLDLSMP LDQYSPSFPD TRSSTCSSGE DSVFSHEPLP EEPCLPRHPA QLANGGLKRR * | ||||||||||||||||
| Position of stopcodon in wt / mu CDS | 2463 / 2463 | ||||||||||||||||
| Position (AA) of stopcodon in wt / mu AA sequence | 821 / 821 | ||||||||||||||||
| Position of stopcodon in wt / mu cDNA | 2764 / 2764 | ||||||||||||||||
| Position of start ATG in wt / mu cDNA | 302 / 302 | ||||||||||||||||
| Last intron/exon boundary | 2587 | ||||||||||||||||
| Theoretical NMD boundary in CDS | 2235 | ||||||||||||||||
| Length of CDS | 2463 | ||||||||||||||||
| Coding sequence (CDS) position | 1337 | ||||||||||||||||
| cDNA position | 1638 | ||||||||||||||||
| gDNA position | 50520 | ||||||||||||||||
| Chromosomal position | 38418315 | ||||||||||||||||
| Speed | 0.05 s | ||||||||||||||||
All positions are in basepairs (bp) if not explicitly stated differently. cDNA/gDNA/chromosomal position: Ins/del are shown as 'last normal base / first normal base'.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project