chr4:6301879:G>A Detail (hg38) (WFS1)

Go to:

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

Information

Genome

Assembly	Position
hg19	chr4:6,303,606-6,303,606 View the variant detail on this assembly version.
hg38	chr4:6,301,879-6,301,879

HGVS

WFS1

Type	Transcript	Protein
RefSeq	NM_001145853.1:c.2084G>A	NP_001139325.1:p.Gly695Asp
	NM_006005.3:c.2084G>A	NP_005996.2:p.Gly695Asp
Ensemble	ENST00000226760.5:c.2084G>A	ENST00000226760.5:p.Gly695Asp
	ENST00000503569.5:c.2084G>A	ENST00000503569.5:p.Gly695Asp
	ENST00000506362.2:c.1835G>A	ENST00000506362.2:p.Gly612Asp
	ENST00000673991.1:c.2120G>A	ENST00000673991.1:p.Gly707Asp
	ENST00000682275.1:c.2120G>A	ENST00000682275.1:p.Gly707Asp
	ENST00000684087.1:c.2084G>A	ENST00000684087.1:p.Gly695Asp

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	Likely pathogenic
Review star
Show details

Links

WFS1

Type	Database	ID	Link
Gene	MIM	606201	OMIM
	HGNC	12762	HGNC
	Ensembl	ENSG00000109501	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
Likely pathogenic	2023-09-10	criteria provided, single submitter	not provided	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.626	Wolfram syndrome	NA	CLINVAR		Detail
0.626	Wolfram syndrome	Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were ...	UNIPROT	9771706	Detail

Annotation

Annotations

Descrption	Source	Links
NM_006005.3(WFS1):c.2084G>A (p.Gly695Asp) AND not provided	ClinVar	Detail
NA	DisGeNET	Detail
Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affecte...	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: -
Genome: hg38
Position: chr4:6,301,879-6,301,879
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8600
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): 120100
Allele Counts in All Race (ExAC): 6
Heterozygous Counts in All Race (ExAC): 6
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.995836802664446E-5

Genome browser