chr1:196747260:C>T Detail (hg38) (CFH)

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

Information

Genome

Assembly	Position
hg19	chr1:196,716,390-196,716,390 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>T	NP_000177.2:p.Arg1215Ter
Ensemble	ENST00000367429.9:c.3643C>T	ENST00000367429.9:p.Arg1215Ter
	ENST00000695970.1:c.3469C>T	ENST00000695970.1:p.Arg1157Ter
	ENST00000695971.1:c.3622C>T	ENST00000695971.1:p.Arg1208Ter
	ENST00000695974.1:c.3466C>T	ENST00000695974.1:p.Arg1156Ter
	ENST00000695976.1:c.3454C>T	ENST00000695976.1:p.Arg1152Ter
	ENST00000695981.1:c.3580+63C>T
	ENST00000695984.1:c.1651C>T	ENST00000695984.1:p.Arg551Ter
	ENST00000696027.1:c.3637C>T	ENST00000696027.1:p.Arg1213Ter
	ENST00000696028.1:c.3571C>T	ENST00000696028.1:p.Arg1191Ter
	ENST00000696029.1:c.3637C>T	ENST00000696029.1:p.Arg1213Ter

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	Uncertain significance
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	COSM901548	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2017-04-27	criteria provided, single submitter	CFH-related disorder	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

Annotation

Annotations

Descrption	Source	Links
NM_000186.4(CFH):c.3643C>T (p.Arg1215Ter) AND CFH-related disorder	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: T
East Asian Chromosome Counts (ExAC): 8642
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): 121378
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): 8.2387253044209E-6

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