chr1:196716261: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	chr1:196,716,261-196,716,261
hg38	chr1:196,747,131-196,747,131 View the variant detail on this assembly version.

HGVS

CFH

Type	Transcript	Protein
RefSeq	NM_000186.3:c.3514G>T	NP_000177.2:p.Glu1172Ter
Ensemble	ENST00000695984.1:c.1522G>T	ENST00000695984.1:p.Glu508Ter
	ENST00000695981.1:c.3514G>T	ENST00000695981.1:p.Glu1172Ter
	ENST00000695974.1:c.3337G>T	ENST00000695974.1:p.Glu1113Ter
	ENST00000695971.1:c.3493G>T	ENST00000695971.1:p.Glu1165Ter
	ENST00000695976.1:c.3325G>T	ENST00000695976.1:p.Glu1109Ter
	ENST00000367429.9:c.3514G>T	ENST00000367429.9:p.Glu1172Ter
	ENST00000695970.1:c.3340G>T	ENST00000695970.1:p.Glu1114Ter
	ENST00000696028.1:c.3442G>T	ENST00000696028.1:p.Glu1148Ter
	ENST00000696027.1:c.3508G>T	ENST00000696027.1:p.Glu1170Ter
	ENST00000696029.1:c.3508G>T	ENST00000696029.1:p.Glu1170Ter

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	risk factor
Review star
Show details

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
risk factor	2003-04-01	no assertion criteria provided	Hemolytic uremic syndrome, atypical, susceptibility to, 1	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.320	Hemolytic uremic syndrome, atypical, susceptibility to, 1	NA	CLINVAR		Detail
0.060	hemolytic-uremic syndrome	Hemolytic uremic syndrome: a factor H mutation (E1172Stop) causes defective comp...	BeFree	17229916	Detail

Annotation

Annotations

Descrption	Source	Links
NM_000186.4(CFH):c.3514G>T (p.Glu1172Ter) AND Hemolytic uremic syndrome, atypical, susceptibility to...	ClinVar	Detail
NA	DisGeNET	Detail
Hemolytic uremic syndrome: a factor H mutation (E1172Stop) causes defective complement control at th...	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: rs121913060 dbSNP
Genome: hg19
Position: chr1:196,716,261-196,716,261
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8640
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121174
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.252595441266279E-6

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