chr1:196659255:C>T Detail (hg19) (CFH)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr1:196,659,255-196,659,255
hg38	chr1:196,690,125-196,690,125 View the variant detail on this assembly version.

HGVS

CFH

Type	Transcript	Protein
RefSeq	NM_001014975.2:c.1222C>T	NP_001014975.1:p.Gln408Ter
	NM_000186.3:c.1222C>T	NP_000177.2:p.Gln408Ter
Ensemble	ENST00000695968.1:c.1039C>T	ENST00000695968.1:p.Gln347Ter
	ENST00000696030.1:c.1147C>T	ENST00000696030.1:p.Gln383Ter
	ENST00000696028.1:c.1222C>T	ENST00000696028.1:p.Gln408Ter
	ENST00000695978.1:c.1222C>T	ENST00000695978.1:p.Gln408Ter
	ENST00000695987.1:c.1033C>T	ENST00000695987.1:p.Gln345Ter
	ENST00000630130.2:c.1222C>T	ENST00000630130.2:p.Gln408Ter
	ENST00000696023.1:c.1222C>T	ENST00000696023.1:p.Gln408Ter
	ENST00000696029.1:c.1222C>T	ENST00000696029.1:p.Gln408Ter
	ENST00000696027.1:c.1222C>T	ENST00000696027.1:p.Gln408Ter
	ENST00000695981.1:c.1222C>T	ENST00000695981.1:p.Gln408Ter
	ENST00000695984.1:c.244+16962C>T
	ENST00000359637.3:c.1030C>T	ENST00000359637.3:p.Gln344Ter
	ENST00000695970.1:c.1222C>T	ENST00000695970.1:p.Gln408Ter
	ENST00000367429.9:c.1222C>T	ENST00000367429.9:p.Gln408Ter
	ENST00000695976.1:c.1033C>T	ENST00000695976.1:p.Gln345Ter
	ENST00000695979.1:c.1201C>T	ENST00000695979.1:p.Gln401Ter
	ENST00000695974.1:c.1222C>T	ENST00000695974.1:p.Gln408Ter
	ENST00000695969.1:c.1222C>T	ENST00000695969.1:p.Gln408Ter
	ENST00000695971.1:c.1201C>T	ENST00000695971.1:p.Gln401Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
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Links

CFH

Type	Database	ID	Link
Gene	MIM	134370	OMIM
	HGNC	4883	HGNC
	Ensembl	ENSG00000000971	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2008-02-01	no assertion criteria provided	basal laminar drusen	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.241	BASAL LAMINAR DRUSEN (disorder)	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000186.4(CFH):c.1222C>T (p.Gln408Ter) AND Basal laminar drusen	ClinVar	Detail
NA	DisGeNET	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs121913061 dbSNP
Genome: hg19
Position: chr1:196,659,255-196,659,255
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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