chr1:196747260:C>G Detail (hg38) (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	chr1:196,716,390-196,716,390 View the variant detail on this assembly version.
hg38	chr1:196,747,260-196,747,260

HGVS

CFH

Type	Transcript	Protein
RefSeq	NM_000186.3:c.3643C>G	NP_000177.2:p.Arg1215Gly
Ensemble	ENST00000367429.9:c.3643C>G	ENST00000367429.9:p.Arg1215Gly
	ENST00000695970.1:c.3469C>G	ENST00000695970.1:p.Arg1157Gly
	ENST00000695971.1:c.3622C>G	ENST00000695971.1:p.Arg1208Gly
	ENST00000695974.1:c.3466C>G	ENST00000695974.1:p.Arg1156Gly
	ENST00000695976.1:c.3454C>G	ENST00000695976.1:p.Arg1152Gly
	ENST00000695981.1:c.3580+63C>G
	ENST00000695984.1:c.1651C>G	ENST00000695984.1:p.Arg551Gly
	ENST00000696027.1:c.3637C>G	ENST00000696027.1:p.Arg1213Gly
	ENST00000696028.1:c.3571C>G	ENST00000696028.1:p.Arg1191Gly
	ENST00000696029.1:c.3637C>G	ENST00000696029.1:p.Arg1213Gly

Summary

MGeND

Clinical significance	Pathogenic
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic; risk factor
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic		hemolytic uremic syndrome	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
risk factor	2003-04-01	no assertion criteria provided	Hemolytic uremic syndrome, atypical, susceptibility to, 1	germline	Detail
Pathogenic	2017-10-25	no assertion criteria provided	atypical hemolytic-uremic syndrome	unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Hemolytic uremic syndrome, atypical, susceptibility to, 1	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly) AND Hemolytic uremic syndrome, atypical, susceptibility to...	ClinVar	Detail
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly) AND Atypical hemolytic-uremic syndrome	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: rs121913051 dbSNP
Genome: hg38
Position: chr1:196,747,260-196,747,260
Variant Type: snv
Reference Allele: C
Alternative Allele: G

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