chr1:196646743:G>T Detail (hg19) (CFH)

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

Genome

Assembly	Position
hg19	chr1:196,646,743-196,646,743
hg38	chr1:196,677,613-196,677,613 View the variant detail on this assembly version.

HGVS

CFH

Type	Transcript	Protein
RefSeq	NM_001014975.2:c.565G>T	NP_001014975.1:p.Glu189Ter
	NM_000186.3:c.565G>T	NP_000177.2:p.Glu189Ter
Ensemble	ENST00000696028.1:c.565G>T	ENST00000696028.1:p.Glu189Ter
	ENST00000630130.2:c.565G>T	ENST00000630130.2:p.Glu189Ter
	ENST00000695970.1:c.565G>T	ENST00000695970.1:p.Glu189Ter
	ENST00000695976.1:c.376G>T	ENST00000695976.1:p.Glu126Ter
	ENST00000695974.1:c.565G>T	ENST00000695974.1:p.Glu189Ter
	ENST00000695968.1:c.382G>T	ENST00000695968.1:p.Glu128Ter
	ENST00000696030.1:c.565G>T	ENST00000696030.1:p.Glu189Ter
	ENST00000695978.1:c.565G>T	ENST00000695978.1:p.Glu189Ter
	ENST00000695987.1:c.376G>T	ENST00000695987.1:p.Glu126Ter
	ENST00000696023.1:c.565G>T	ENST00000696023.1:p.Glu189Ter
	ENST00000696029.1:c.565G>T	ENST00000696029.1:p.Glu189Ter
	ENST00000696027.1:c.565G>T	ENST00000696027.1:p.Glu189Ter
	ENST00000695981.1:c.565G>T	ENST00000695981.1:p.Glu189Ter
	ENST00000695984.1:c.244+4450G>T
	ENST00000359637.3:c.427+1548G>T
	ENST00000367429.9:c.565G>T	ENST00000367429.9:p.Glu189Ter
	ENST00000695979.1:c.565G>T	ENST00000695979.1:p.Glu189Ter
	ENST00000695969.1:c.565G>T	ENST00000695969.1:p.Glu189Ter
	ENST00000695971.1:c.565G>T	ENST00000695971.1:p.Glu189Ter

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	COSM6627484	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2000-04-01	no assertion criteria provided	Factor H deficiency	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.482	Complement Factor H Deficiency	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000186.4(CFH):c.565G>T (p.Glu189Ter) AND Factor H deficiency	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: rs121913054 dbSNP
Genome: hg19
Position: chr1:196,646,743-196,646,743
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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