MutationT@ster 2025

NEVER press reload or F5 - unless you want to start from the very beginning.
Input seems to be ok - now mapping the variant to the different transcripts...
Querying Taster for transcript #1: ENST00000359637
Querying Taster for transcript #2: ENST00000695969
Querying Taster for transcript #3: ENST00000695970
Querying Taster for transcript #4: ENST00000695971
Querying Taster for transcript #5: ENST00000695974
Querying Taster for transcript #6: ENST00000695976
Querying Taster for transcript #7: ENST00000695978
Querying Taster for transcript #8: ENST00000695979
Querying Taster for transcript #9: ENST00000695981
Querying Taster for transcript #10: ENST00000696023
Querying Taster for transcript #11: ENST00000695968
Querying Taster for transcript #12: ENST00000696032
Querying Taster for transcript #13: ENST00000695987
Querying Taster for transcript #14: ENST00000630130
Querying Taster for transcript #15: ENST00000367429
Querying Taster for transcript #16: ENST00000696030
Querying Taster for transcript #17: ENST00000695984
Querying Taster for transcript #18: ENST00000696029
Querying Taster for transcript #19: ENST00000696028
Querying Taster for transcript #20: ENST00000696027
MT speed 0.32 s - this script 2.755253 s

Transcript summary:

Permalink

Transcript	Gene symbol	Prediction	Tree vote	Model	Splice site change	Variant type	Protein length	Features at a glance
ENST00000359637	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000695969	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000695970	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000695971	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000695974	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000695976	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000695978	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000695979	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000695981	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000696023	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000695968	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000695987	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000630130	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000367429(MANE Select)	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000696030	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000695984	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000696029	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000696028	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD
ENST00000696027	CFH	Benign	0\|200	without_aae	No	Single base exchange	N/A	Heterozygous in gnomAD

Some transcripts had annotation problems and are not shown

MutationT@ster 2025

Variant:

1:196692386G>T_1_ENST00000359637

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

LOEUF: 0.64, LOF (oe): 0.41, misssense (oe): 0.85, synonymous (oe): 1.14 ? (gnomAD)

Ensembl transcript ID

ENST00000359637.3

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1144+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEEISCKSPD VINGSPISQK IIYKENERFQ YKCNMGYEYS
ERGDAVCTES GWRPLPSCEE KSCDNPYIPN GDYSPLRIKH RTGDEITYQC RNGFYPATRG
NTAKCTSTGW IPAPRCTLKP CDYPDIKHGG LYHENMRRPY FPVAVGKYYS YYCDEHFETP
SGSYWDHIHC TQDGWSPAVP CLRKCYFPYL ENGYNQNHGR KFVQGKSIDV ACHPGYALPK
AQTTVTCMEN GWSPTPRCIR VSFTL*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

365 / 365

Last intron/exon boundary

1508

Theoretical NMD boundary in CDS

1093

Length of CDS

1158

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_2_ENST00000695969

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000695969.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1336+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TLKPCDYPDI KHGGLYHENM RRPYFPVAVG KYYSYYCDEH
FETPSGSYWD HIHCTQDGWS PAVPCLRKCY FPYLENGYNQ NHGRKFVQGK SIDVACHPGY
ALPKAQTTVT CMENGWSPTP RCIRVKTCSK SSIDIENGFI SESQYTYALK EKAKYQCKLG
YVTADGETSG SITCGKDGWS AQPTCIKSCD IPVFMNARTK NDFTWFKLND TLDYECHDGY
ESNTGSTTGS IVCGYNGWSD LPICYERECE LPKIDVHLVP DRKKDQYKVG EVLKFSCKPG
FTIVGPNSVQ CYHFGLSPDL PICKEQVQSC GPPPELLNGN VKEKTKEEYG HSEVVEYYCN
PRFLMKGPNK IQCVDGEWTT LPVCIVEEST CGDIPELEHG WAQLSSPPYY YGDSVEFNCS
ESFTMIGHRS ITCIHGVWTQ LPQCVAIDKL KKCKSSNLII LEEHLKNKKE FDHNSNIRYR
CRGKEGWIHT VCINGRWDPE VNCSMAQIQL CPPPPQIPNS HNMTTTLNYR DGEKVSVLCQ
ENYLIQEGEE ITCKDGRWQS IPLCVEKIPC SQPPQIEHGT INSSRSSQES YAHGTKLSYT
CEGGFRISEE NETTCYMGKW SSPPQCEG*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

267 / 267

Last intron/exon boundary

2862

Theoretical NMD boundary in CDS

2545

Length of CDS

2787

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_3_ENST00000695970

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000695970.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1336+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TLKPCDYPDI KHGGLYHENM RRPYFPVAVG KYYSYYCDEH
FETPSGSYWD HIHCTQDGWS PAVPCLRKCY FPYLENGYNQ NHGRKFVQGK SIDVACHPGY
ALPKAQTTVT CMENGWSPTP RCIRVKTCSK SSIDIENGFI SESQYTYALK EKAKYQCKLG
YVTADGETSG SITCGKDGWS AQPTCIKSCD IPVFMNARTK NDFTWFKLND TLDYECHDGY
ESNTGSTTGS IVCGYNGWSD LPICYERECE LPKIDVHLVP DRKKDQYKVG EVLKFSCKPG
FTIVGPNSVQ CYHFGLSPDL PICKEQVQSC GPPPELLNGN VKEKTKEEYG HSEVVEYYCN
PRFLMKGPNK IQCVDGEWTT LPVCIVEEST CGDIPELEHG WAQLSSPPYY YGDSVEFNCS
ESFTMIGHRS ITCIHGVWTQ LPQCVAIDKL KKCKSSNLII LEEHLKNKKE FDHNSNIRYR
CRGKEGWIHT VCINGRWDPE VNCSMAQIQL CPPPPQIPNS HNMTTTLNYR DGEKVSVLCQ
ENYLIQEGEE ITCKDGRWQS IPLCVEKIPC SQPPQIEHGT INSSRSSQES YAHGTKLSYT
CEGGFRISEE NETTCYMGKW SSPPQCEETD CLSLPSFENA IPMGEKKDVY KAGEQVTYTC
ATYYKMDGAS NVTCINSRWT GRPTCRDTSC VNPPTVQNAY IVSRQMSKYP SGERVRYQCR
SPYEMFGDEE VMCLNGNWTE PPQCKDSTGK CGPPPPIDNG DITSFPLSVY APASSVEYQC
QNLYQLEGNK RITCRNGQWS EPPKCLHPCV ISREIMENYN IALRWTAKQK LYSRTGESVE
FVCKRGYRLS SRSHTLRTTC WDGKLEYPTC AKR*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

267 / 267

Last intron/exon boundary

3585

Theoretical NMD boundary in CDS

3268

Length of CDS

3522

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_4_ENST00000695971

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000695971.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1315+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TYIKHGGLYH ENMRRPYFPV AVGKYYSYYC DEHFETPSGS
YWDHIHCTQD GWSPAVPCLR KCYFPYLENG YNQNHGRKFV QGKSIDVACH PGYALPKAQT
TVTCMENGWS PTPRCIRVKT CSKSSIDIEN GFISESQYTY ALKEKAKYQC KLGYVTADGE
TSGSITCGKD GWSAQPTCIK SCDIPVFMNA RTKNDFTWFK LNDTLDYECH DGYESNTGST
TGSIVCGYNG WSDLPICYER ECELPKIDVH LVPDRKKDQY KVGEVLKFSC KPGFTIVGPN
SVQCYHFGLS PDLPICKEQV QSCGPPPELL NGNVKEKTKE EYGHSEVVEY YCNPRFLMKG
PNKIQCVDGE WTTLPVCIVE ESTCGDIPEL EHGWAQLSSP PYYYGDSVEF NCSESFTMIG
HRSITCIHGV WTQLPQCVAI DKLKKCKSSN LIILEEHLKN KKEFDHNSNI RYRCRGKEGW
IHTVCINGRW DPEVNCSMAQ IQLCPPPPQI PNSHNMTTTL NYRDGEKVSV LCQENYLIQE
GEEITCKDGR WQSIPLCVEK IPCSQPPQIE HGTINSSRSS QESYAHGTKL SYTCEGGFRI
SEENETTCYM GKWSSPPQCE GLPCKSPPEI SHGVVAHMSD SYQYGEEVTY KCFEGFGIDG
PAIAKCLGEK WSHPPSCIKT DCLSLPSFEN AIPMGEKKDV YKAGEQVTYT CATYYKMDGA
SNVTCINSRW TGRPTCRDTS CVNPPTVQNA YIVSRQMSKY PSGERVRYQC RSPYEMFGDE
EVMCLNGNWT EPPQCKDSTG KCGPPPPIDN GDITSFPLSV YAPASSVEYQ CQNLYQLEGN
KRITCRNGQW SEPPKCLHPC VISREIMENY NIALRWTAKQ KLYSRTGESV EFVCKRGYRL
SSRSHTLRTT CWDGKLEYPT CAKR*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

267 / 267

Last intron/exon boundary

3738

Theoretical NMD boundary in CDS

3421

Length of CDS

3675

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_5_ENST00000695974

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000695974.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1336+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TLKPCDYPDI KHGGLYHENM RRPYFPVAVG KYYSYYCDEH
FETPSGSYWD HIHCTQDGWS PAVPCLRKCY FPYLENGYNQ NHGRKFVQGK SIDVACHPGY
ALPKAQTTVT CMENGWSPTP RCIRVKTCSK SSIDIENGFI SESQYTYALK EKAKYQCKLG
YVTADGETSG SITCGKDGWS AQPTCIKSCD IPVFMNARTK NDFTWFKLND TLDYECHDGY
ESNTGSTTGS IVCGYNGWSD LPICYEQVQS CGPPPELLNG NVKEKTKEEY GHSEVVEYYC
NPRFLMKGPN KIQCVDGEWT TLPVCIVEES TCGDIPELEH GWAQLSSPPY YYGDSVEFNC
SESFTMIGHR SITCIHGVWT QLPQCVAIDK LKKCKSSNLI ILEEHLKNKK EFDHNSNIRY
RCRGKEGWIH TVCINGRWDP EVNCSMAQIQ LCPPPPQIPN SHNMTTTLNY RDGEKVSVLC
QENYLIQEGE EITCKDGRWQ SIPLCVEKIP CSQPPQIEHG TINSSRSSQE SYAHGTKLSY
TCEGGFRISE ENETTCYMGK WSSPPQCEGL PCKSPPEISH GVVAHMSDSY QYGEEVTYKC
FEGFGIDGPA IAKCLGEKWS HPPSCIKTDC LSLPSFENAI PMGEKKDVYK AGEQVTYTCA
TYYKMDGASN VTCINSRWTG RPTCRDTSCV NPPTVQNAYI VSRQMSKYPS GERVRYQCRS
PYEMFGDEEV MCLNGNWTEP PQCKDSTGKC GPPPPIDNGD ITSFPLSVYA PASSVEYQCQ
NLYQLEGNKR ITCRNGQWSE PPKCLHPCVI SREIMENYNI ALRWTAKQKL YSRTGESVEF
VCKRGYRLSS RSHTLRTTCW DGKLEYPTCA KR*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

241 / 241

Last intron/exon boundary

3556

Theoretical NMD boundary in CDS

3265

Length of CDS

3519

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_6_ENST00000695976

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000695976.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1147+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MVCRKGEWVA LNPLRKCQKR PCGHPGDTPF GTFTLTGGNV FEYGVKAVYT CNEGYQLLGE
INYRECDTDG WTNDIPICEV VKCLPVTAPE NGKIVSSAME PDREYHFGQA VRFVCNSGYK
IEGDEEMHCS DDGFWSKEKP KCVEISCKSP DVINGSPISQ KIIYKENERF QYKCNMGYEY
SERGDAVCTE SGWRPLPSCE EKSCDNPYIP NGDYSPLRIK HRTGDEITYQ CRNGFYPATR
GNTAKCTSTG WIPAPRCTLK PCDYPDIKHG GLYHENMRRP YFPVAVGKYY SYYCDEHFET
PSGSYWDHIH CTQDGWSPAV PCLRKCYFPY LENGYNQNHG RKFVQGKSID VACHPGYALP
KAQTTVTCME NGWSPTPRCI RVKTCSKSSI DIENGFISES QYTYALKEKA KYQCKLGYVT
ADGETSGSIT CGKDGWSAQP TCIKSCDIPV FMNARTKNDF TWFKLNDTLD YECHDGYESN
TGSTTGSIVC GYNGWSDLPI CYERECELPK IDVHLVPDRK KDQYKVGEVL KFSCKPGFTI
VGPNSVQCYH FGLSPDLPIC KEQVQSCGPP PELLNGNVKE KTKEEYGHSE VVEYYCNPRF
LMKGPNKIQC VDGEWTTLPV CIVEESTCGD IPELEHGWAQ LSSPPYYYGD SVEFNCSESF
TMIGHRSITC IHGVWTQLPQ CVAIDKLKKC KSSNLIILEE HLKNKKEFDH NSNIRYRCRG
KEGWIHTVCI NGRWDPEVNC SMAQIQLCPP PPQIPNSHNM TTTLNYRDGE KVSVLCQENY
LIQEGEEITC KDGRWQSIPL CVEKIPCSQP PQIEHGTINS SRSSQESYAH GTKLSYTCEG
GFRISEENET TCYMGKWSSP PQCEGLPCKS PPEISHGVVA HMSDSYQYGE EVTYKCFEGF
GIDGPAIAKC LGEKWSHPPS CIKTDCLSLP SFENAIPMGE KKDVYKAGEQ VTYTCATYYK
MDGASNVTCI NSRWTGRPTC RDTSCVNPPT VQNAYIVSRQ MSKYPSGERV RYQCRSPYEM
FGDEEVMCLN GNWTEPPQCK DSTGKCGPPP PIDNGDITSF PLSVYAPASS VEYQCQNLYQ
LEGNKRITCR NGQWSEPPKC LHPCVISREI MENYNIALRW TAKQKLYSRT GESVEFVCKR
GYRLSSRSHT LRTTCWDGKL EYPTCAKR*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

421 / 421

Last intron/exon boundary

3724

Theoretical NMD boundary in CDS

3253

Length of CDS

3507

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.01 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_7_ENST00000695978

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000695978.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1340+2143G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TLKPCDYPDI KHGGLYHENM RRPYFPVAVG KYYSYYCDEH
FETPSGSYWD HIHCTQDGWS PAVPCLRKCY FPYLENGYNQ NHGRKFVQGK SIDVACHPGY
ALPKAQTTVT CMENGWSPTP RCIRVSKAVL TFSTQPCLQQ RNHFWSQKKS QALPSELLIE
GHPSPA*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

121 / 121

Last intron/exon boundary

1533

Theoretical NMD boundary in CDS

1362

Length of CDS

1461

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.01 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_8_ENST00000695979

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000695979.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1315+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TYIKHGGLYH ENMRRPYFPV AVGKYYSYYC DEHFETPSGS
YWDHIHCTQD GWSPAVPCLR KCYFPYLENG YNQNHGRKFV QGKSIDVACH PGYALPKAQT
TVTCMENGWS PTPRCIRVSF TL*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

121 / 121

Last intron/exon boundary

1435

Theoretical NMD boundary in CDS

1264

Length of CDS

1329

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.01 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_9_ENST00000695981

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000695981.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1336+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TLKPCDYPDI KHGGLYHENM RRPYFPVAVG KYYSYYCDEH
FETPSGSYWD HIHCTQDGWS PAVPCLRKCY FPYLENGYNQ NHGRKFVQGK SIDVACHPGY
ALPKAQTTVT CMENGWSPTP RCIRVKTCSK SSIDIENGFI SESQYTYALK EKAKYQCKLG
YVTADGETSG SITCGKDGWS AQPTCIKSCD IPVFMNARTK NDFTWFKLND TLDYECHDGY
ESNTGSTTGS IVCGYNGWSD LPICYERECE LPKIDVHLVP DRKKDQYKVG EVLKFSCKPG
FTIVGPNSVQ CYHFGLSPDL PICKEQVQSC GPPPELLNGN VKEKTKEEYG HSEVVEYYCN
PRFLMKGPNK IQCVDGEWTT LPVCIVEEST CGDIPELEHG WAQLSSPPYY YGDSVEFNCS
ESFTMIGHRS ITCIHGVWTQ LPQCVAIDKL KKCKSSNLII LEEHLKNKKE FDHNSNIRYR
CRGKEGWIHT VCINGRWDPE VNCSMAQIQL CPPPPQIPNS HNMTTTLNYR DGEKVSVLCQ
ENYLIQEGEE ITCKDGRWQS IPLCVEKIPC SQPPQIEHGT INSSRSSQES YAHGTKLSYT
CEGGFRISEE NETTCYMGKW SSPPQCEGLP CKSPPEISHG VVAHMSDSYQ YGEEVTYKCF
EGFGIDGPAI AKCLGEKWSH PPSCIKTDCL SLPSFENAIP MGEKKDVYKA GEQVTYTCAT
YYKMDGASNV TCINSRWTGR PTCRDTSCVN PPTVQNAYIV SRQMSKYPSG ERVRYQCRSP
YEMFGDEEVM CLNGNWTEPP QCKDSTGKCG PPPPIDNGDI TSFPLSVYAP ASSVEYQCQN
LYQLEGNKRI TCRNGQWSEP PKCLHPCVIS REIMENYNIA LRWTAKQKLY SRTELN*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

121 / 121

Last intron/exon boundary

3700

Theoretical NMD boundary in CDS

3529

Length of CDS

3591

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_10_ENST00000696023

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000696023.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.*19+2102G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TLKPCDYPDI KHGGLYHENM RRPYFPVAVG KYYSYYCDEH
FETPSGSYWD HIHCTQDGWS PAVPCLRKCY FPYLENGYNQ NHGRKFVQGK SIDVACHPGY
ALPKAQTTVT CMENGWSPTP RCIRVSKYTT LKS*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

85 / 85

Last intron/exon boundary

1465

Theoretical NMD boundary in CDS

1330

Length of CDS

1362

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.01 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_11_ENST00000695968

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000695968.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1153+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QIVKCLPVTA PENGKIVSSA MEPDREYHFG QAVRFVCNSG
YKIEGDEEMH CSDDGFWSKE KPKCVEISCK SPDVINGSPI SQKIIYKENE RFQYKCNMGY
EYSERGDAVC TESGWRPLPS CEEKSCDNPY IPNGDYSPLR IKHRTGDEIT YQCRNGFYPA
TRGNTAKCTS TGWIPAPRCT LKPCDYPDIK HGGLYHENMR RPYFPVAVGK YYSYYCDEHF
ETPSGSYWDH IHCTQDGWSP AVPCLRKCYF PYLENGYNQN HGRKFVQGKS IDVACHPGYA
LPKAQTTVTC MENGWSPTPR CIRVSFTL*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

328 / 328

Last intron/exon boundary

1480

Theoretical NMD boundary in CDS

1102

Length of CDS

1167

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.01 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_13_ENST00000695987

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000695987.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1147+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MVCRKGEWVA LNPLRKCQKR PCGHPGDTPF GTFTLTGGNV FEYGVKAVYT CNEGYQLLGE
INYRECDTDG WTNDIPICEV VKCLPVTAPE NGKIVSSAME PDREYHFGQA VRFVCNSGYK
IEGDEEMHCS DDGFWSKEKP KCVEISCKSP DVINGSPISQ KIIYKENERF QYKCNMGYEY
SERGDAVCTE SGWRPLPSCE EKSCDNPYIP NGDYSPLRIK HRTGDEITYQ CRNGFYPATR
GNTAKCTSTG WIPAPRCTLK PCDYPDIKHG GLYHENMRRP YFPVAVGKYY SYYCDEHFET
PSGSYWDHIH CTQDGWSPAV PCLRKCYFPY LENGYNQNHG RKFVQGKSID VACHPGYALP
KAQTTVTCME NGWSPTPRCI RVSFTL*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

327 / 327

Last intron/exon boundary

1473

Theoretical NMD boundary in CDS

1096

Length of CDS

1161

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_14_ENST00000630130

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

LOEUF: 0.61, LOF (oe): 0.41, misssense (oe): 0.89, synonymous (oe): 1.14 ? (gnomAD)

Ensembl transcript ID

ENST00000630130.2

Genbank transcript ID

NM_001014975 (by similarity)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1336+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TLKPCDYPDI KHGGLYHENM RRPYFPVAVG KYYSYYCDEH
FETPSGSYWD HIHCTQDGWS PAVPCLRKCY FPYLENGYNQ NHGRKFVQGK SIDVACHPGY
ALPKAQTTVT CMENGWSPTP RCIRVSFTL*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

74 / 74

Last intron/exon boundary

1409

Theoretical NMD boundary in CDS

1285

Length of CDS

1350

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_15_ENST00000367429

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

LOEUF: 0.43, LOF (oe): 0.33, misssense (oe): 0.89, synonymous (oe): 1.05 ? (gnomAD)

Ensembl transcript ID

ENST00000367429.9

Genbank transcript ID

NM_000186 (exact from MANE)

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1336+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TLKPCDYPDI KHGGLYHENM RRPYFPVAVG KYYSYYCDEH
FETPSGSYWD HIHCTQDGWS PAVPCLRKCY FPYLENGYNQ NHGRKFVQGK SIDVACHPGY
ALPKAQTTVT CMENGWSPTP RCIRVKTCSK SSIDIENGFI SESQYTYALK EKAKYQCKLG
YVTADGETSG SITCGKDGWS AQPTCIKSCD IPVFMNARTK NDFTWFKLND TLDYECHDGY
ESNTGSTTGS IVCGYNGWSD LPICYERECE LPKIDVHLVP DRKKDQYKVG EVLKFSCKPG
FTIVGPNSVQ CYHFGLSPDL PICKEQVQSC GPPPELLNGN VKEKTKEEYG HSEVVEYYCN
PRFLMKGPNK IQCVDGEWTT LPVCIVEEST CGDIPELEHG WAQLSSPPYY YGDSVEFNCS
ESFTMIGHRS ITCIHGVWTQ LPQCVAIDKL KKCKSSNLII LEEHLKNKKE FDHNSNIRYR
CRGKEGWIHT VCINGRWDPE VNCSMAQIQL CPPPPQIPNS HNMTTTLNYR DGEKVSVLCQ
ENYLIQEGEE ITCKDGRWQS IPLCVEKIPC SQPPQIEHGT INSSRSSQES YAHGTKLSYT
CEGGFRISEE NETTCYMGKW SSPPQCEGLP CKSPPEISHG VVAHMSDSYQ YGEEVTYKCF
EGFGIDGPAI AKCLGEKWSH PPSCIKTDCL SLPSFENAIP MGEKKDVYKA GEQVTYTCAT
YYKMDGASNV TCINSRWTGR PTCRDTSCVN PPTVQNAYIV SRQMSKYPSG ERVRYQCRSP
YEMFGDEEVM CLNGNWTEPP QCKDSTGKCG PPPPIDNGDI TSFPLSVYAP ASSVEYQCQN
LYQLEGNKRI TCRNGQWSEP PKCLHPCVIS REIMENYNIA LRWTAKQKLY SRTGESVEFV
CKRGYRLSSR SHTLRTTCWD GKLEYPTCAK R*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

76 / 76

Last intron/exon boundary

3568

Theoretical NMD boundary in CDS

3442

Length of CDS

3696

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_16_ENST00000696030

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000696030.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1261+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TLAVGKYYSY YCDEHFETPS GSYWDHIHCT QDGWSPAVPC
LRKCYFPYLE NGYNQNHGRK FVQGKSIDVA CHPGYALPKA QTTVTCMENG WSPTPRCIRV
SFTL*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

76 / 76

Last intron/exon boundary

1336

Theoretical NMD boundary in CDS

1210

Length of CDS

1275

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_17_ENST00000695984

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000695984.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.244+19223G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QTIDKLKKCK SSNLIILEEH LKNKKEFDHN SNIRYRCRGK
EGWIHTVCIN GRWDPEVNCS MAQIQLCPPP PQIPNSHNMT TTLNYRDGEK VSVLCQENYL
IQEGEEITCK DGRWQSIPLC VEKIPCSQPP QIEHGTINSS RSSQESYAHG TKLSYTCEGG
FRISEENETT CYMGKWSSPP QCEGLPCKSP PEISHGVVAH MSDSYQYGEE VTYKCFEGFG
IDGPAIAKCL GEKWSHPPSC IKTDCLSLPS FENAIPMGEK KDVYKAGEQV TYTCATYYKM
DGASNVTCIN SRWTGRPTCR DTSCVNPPTV QNAYIVSRQM SKYPSGERVR YQCRSPYEMF
GDEEVMCLNG NWTEPPQCKD STGKCGPPPP IDNGDITSFP LSVYAPASSV EYQCQNLYQL
EGNKRITCRN GQWSEPPKCL HPCVISREIM ENYNIALRWT AKQKLYSRTG ESVEFVCKRG
YRLSSRSHTL RTTCWDGKLE YPTCAKR*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

80 / 80

Last intron/exon boundary

1580

Theoretical NMD boundary in CDS

1450

Length of CDS

1704

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.01 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_18_ENST00000696029

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000696029.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1336+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TLKPCDYPDI KHGGLYHENM RRPYFPVAVG KYYSYYCDEH
FETPSGSYWD HIHCTQDGWS PAVPCLRKCY FPYLENGYNQ NHGRKFVQGK SIDVACHPGY
ALPKAQTTVT CMENGWSPTP RCIRVKTCSK SSIDIENGFI SESQYTYALK EKAKYQCKLG
YVTADGETSG SITCGKDGWS AQPTCIKSCD IPVFMNARTK NDFTWFKLND TLDYECHDGY
ESNTGSTTGS IVCGYNGWSD LPICYERECE LPKIDVHLVP DRKKDQYKVG EVLKFSCKPG
FTIVGPNSVQ CYHFGLSPDL PICKEQVQSC GPPPELLNGN VKEKTKEEYG HSEVVEYYCN
PRFLMKGPNK IQCVDGEWTT LPVCIVEEST CGDIPELEHG WAQLSSPPYY YGDSVEFNCS
ESFTMIGHRS ITCIHGVWTQ LPQCVAIDKL KKCKSSNLII LEEHLKNKKE FDHNSNIRYR
CRGKEGWIHT VCINGRWDPE VNCSMAQIQL CPPPPQIPNS HNMTTTLNYR DGEKVSVLCQ
ENYLIQEGEE ITCKDGRWQS IPLCVEKIPC SQPPQIEHGT INSSRSSQES YAHGTKLSYT
CEGGFRISEE NETTCYMGKW SSPPQCEGLP CKSPPEISHG VVAHMSDSYQ YGEEVTYKCF
EGFGIDGPAI AKCLGEKWSH PPSCINCLSL PSFENAIPMG EKKDVYKAGE QVTYTCATYY
KMDGASNVTC INSRWTGRPT CRDTSCVNPP TVQNAYIVSR QMSKYPSGER VRYQCRSPYE
MFGDEEVMCL NGNWTEPPQC KDSTGKCGPP PPIDNGDITS FPLSVYAPAS SVEYQCQNLY
QLEGNKRITC RNGQWSEPPK CLHPCVISRE IMENYNIALR WTAKQKLYSR TGESVEFVCK
RGYRLSSRSH TLRTTCWDGK LEYPTCAKR*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

85 / 85

Last intron/exon boundary

3571

Theoretical NMD boundary in CDS

3436

Length of CDS

3690

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.02 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

Back to summary table

MutationT@ster 2025

Variant:

1:196692386G>T_19_ENST00000696028

Back to summary table

Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000696028.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1336+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TLKPCDYPDI KHGGLYHENM RRPYFPVAVG KYYSYYCDEH
FETPSGSYWD HIHCTQDGWS PAVPCLRKCY FPYLENGYNQ NHGRKFVQGK SIDVACHPGY
ALPKAQTTVT CMENGWSPTP RCIRVKTCSK SSIDIENGFI SESQYTYALK EKAKYQCKLG
YVTADGETSG SITCGKDGWS AQPTCIKSCD IPVFMNARTK NDFTWFKLND TLDYECHDGY
ESNTGSTTGS IVCGYNGWSD LPICYERECE LPKIDVHLVP DRKKDQYKVG EVLKFSCKPG
FTIVGPNSVQ CYHFGLSPDL PICKEQVQSC GPPPELLNGN VKEKTKEEYG HSEVVEYYCN
PRFLMKGPNK IQCVDGEWTT LPVCIVEEST CGDIPELEHG WAQLSSPPYY YGDSVEFNCS
ESFTMIGHRS ITCIHGVWTQ LPQCVAIDKL KKCKSSNLII LEEHLKNKKE FDHNSNIRYR
CRGKEGWIHT VCINGRWDPE VNCSMAQIQL CPPPPQIPNS HNMTTTLNYR DGEKVSVLCQ
ENYLIQEGEE ITCKDGRWQS IPLCVEKIPC SQPPQIEHGT INSSRSSQES YAHGTKLSYT
CEGGFRISEE NETTCYMGKW SSPPQCEGLP CKSPPEISHG VVAHMSDSYQ YGEEVTYKCF
EETDCLSLPS FENAIPMGEK KDVYKAGEQV TYTCATYYKM DGASNVTCIN SRWTGRPTCR
DTSCVNPPTV QNAYIVSRQM SKYPSGERVR YQCRSPYEMF GDEEVMCLNG NWTEPPQCKD
STGKCGPPPP IDNGDITSFP LSVYAPASSV EYQCQNLYQL EGNKRITCRN GQWSEPPKCL
HPCVISREIM ENYNIALRWT AKQKLYSRTG ESVEFVCKRG YRLSSRSHTL RTTCWDGKLE
YPTCAKR*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

85 / 85

Last intron/exon boundary

3505

Theoretical NMD boundary in CDS

3370

Length of CDS

3624

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.02 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

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MutationT@ster 2025

Variant:

1:196692386G>T_20_ENST00000696027

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Prediction:

BenignPermalink

Summary:

Heterozygous in gnomAD

Model: without_aae
Tree vote: 0|200 (del | benign) ?

Analysed issue

Analysis result

Variant

Chr1:196692386G>T (GRCh38)

Gene symbol

CFH

Gene constraints

no data

Ensembl transcript ID

ENST00000696027.1

Genbank transcript ID

UniProt / AlphaMissense peptide

N/A

Variant type

Single base exchange

Gene region

intron

DNA changes

c.1336+2147G>T
g.40633G>T

AA changes

N/A

Frameshift

No

Length of protein

N/A

Pathogenic variant (ClinVar)

Variant not listed in ClinVar as (likely) pathogenic.

Variant DBs

dbSNP ID	rs149387455
gnomAD	homozygous (T/T)	heterozygous	allele carriers
	6	596	602

Protein conservation

N/A

Protein features

N/A

Phylogenetic conservation

	PhyloP	PhastCons
(flanking)	1.247	0.002
	-0.113	0.001
(flanking)	-1.363	0

?

Splice sites

No abrogation of potential splice sites predicted by MaxEntScan.

Distance from splice site

N/A

Kozak consensus sequence altered?

N/A

poly(A) signal

N/A

AA sequence altered

N/A

Chromosome

1

Strand

1

Original gDNA sequence snippet

TTCTTCACAGATTAATTGAGGCTAATAATATGCCTTGATTA

Altered gDNA sequence snippet

TTCTTCACAGATTAATTGAGTCTAATAATATGCCTTGATTA

Original cDNA sequence snippet

N/A

Altered cDNA sequence snippet

N/A

Wildtype AA sequence

MRLLAKIICL MLWAICVAED CNELPPRRNT EILTGSWSDQ TYPEGTQAIY KCRPGYRSLG
NVIMVCRKGE WVALNPLRKC QKRPCGHPGD TPFGTFTLTG GNVFEYGVKA VYTCNEGYQL
LGEINYRECD TDGWTNDIPI CEVVKCLPVT APENGKIVSS AMEPDREYHF GQAVRFVCNS
GYKIEGDEEM HCSDDGFWSK EKPKCVEISC KSPDVINGSP ISQKIIYKEN ERFQYKCNMG
YEYSERGDAV CTESGWRPLP SCEEKSCDNP YIPNGDYSPL RIKHRTGDEI TYQCRNGFYP
ATRGNTAKCT STGWIPAPRC TLKPCDYPDI KHGGLYHENM RRPYFPVAVG KYYSYYCDEH
FETPSGSYWD HIHCTQDGWS PAVPCLRKCY FPYLENGYNQ NHGRKFVQGK SIDVACHPGY
ALPKAQTTVT CMENGWSPTP RCIRVKTCSK SSIDIENGFI SESQYTYALK EKAKYQCKLG
YVTADGETSG SITCGKDGWS AQPTCIKSCD IPVFMNARTK NDFTWFKLND TLDYECHDGY
ESNTGSTTGS IVCGYNGWSD LPICYERECE LPKIDVHLVP DRKKDQYKVG EVLKFSCKPG
FTIVGPNSVQ CYHFGLSPDL PICKEQVQSC GPPPELLNGN VKEKTKEEYG HSEVVEYYCN
PRFLMKGPNK IQCVDGEWTT LPVCIVEEST CGDIPELEHG WAQLSSPPYY YGDSVEFNCS
ESFTMIGHRS ITCIHGVWTQ LPQCVDKLKK CKSSNLIILE EHLKNKKEFD HNSNIRYRCR
GKEGWIHTVC INGRWDPEVN CSMAQIQLCP PPPQIPNSHN MTTTLNYRDG EKVSVLCQEN
YLIQEGEEIT CKDGRWQSIP LCVEKIPCSQ PPQIEHGTIN SSRSSQESYA HGTKLSYTCE
GGFRISEENE TTCYMGKWSS PPQCEGLPCK SPPEISHGVV AHMSDSYQYG EEVTYKCFEG
FGIDGPAIAK CLGEKWSHPP SCIKTDCLSL PSFENAIPMG EKKDVYKAGE QVTYTCATYY
KMDGASNVTC INSRWTGRPT CRDTSCVNPP TVQNAYIVSR QMSKYPSGER VRYQCRSPYE
MFGDEEVMCL NGNWTEPPQC KDSTGKCGPP PPIDNGDITS FPLSVYAPAS SVEYQCQNLY
QLEGNKRITC RNGQWSEPPK CLHPCVISRE IMENYNIALR WTAKQKLYSR TGESVEFVCK
RGYRLSSRSH TLRTTCWDGK LEYPTCAKR*

Mutated AA sequence

Position of stopcodon in wt / mu CDS

N/A

Position (AA) of stopcodon in wt / mu AA sequence

N/A

Position of stopcodon in wt / mu cDNA

N/A

Position of start ATG in wt / mu cDNA

85 / 85

Last intron/exon boundary

3571

Theoretical NMD boundary in CDS

3436

Length of CDS

3690

Coding sequence (CDS) position

N/A

cDNA position

N/A

gDNA position

40633

Chromosomal position

196692386

Speed

0.02 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

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Problem:

1

MutationT@ster 2025

Data problem

No NCBI gene ID found.

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