chr4:6303408:G>A Detail (hg19) (WFS1)

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

Genome

Assembly	Position
hg19	chr4:6,303,408-6,303,408
hg38	chr4:6,301,681-6,301,681 View the variant detail on this assembly version.

HGVS

WFS1

Type	Transcript	Protein
RefSeq	NM_001145853.1:c.1886G>A	NP_001139325.1:p.Arg629Gln
	NM_006005.3:c.1886G>A	NP_005996.2:p.Arg629Gln
Ensemble	ENST00000226760.5:c.1886G>A	ENST00000226760.5:p.Arg629Gln
	ENST00000503569.5:c.1886G>A	ENST00000503569.5:p.Arg629Gln
	ENST00000506362.2:c.1637G>A	ENST00000506362.2:p.Arg546Gln
	ENST00000673991.1:c.1922G>A	ENST00000673991.1:p.Arg641Gln
	ENST00000682275.1:c.1922G>A	ENST00000682275.1:p.Arg641Gln
	ENST00000684087.1:c.1886G>A	ENST00000684087.1:p.Arg629Gln

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	Conflicting classifications of pathogenicity
Review star
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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	2013-08-06	criteria provided, single submitter	Rare genetic deafness	germline	Detail
Uncertain significance	2023-05-19	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Uncertain significance	2018-01-05	criteria provided, single submitter	Monogenic diabetes	unknown	Detail
Uncertain significance	2021-07-22	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Uncertain significance Uncertain risk allele	2024-03-29	criteria provided, multiple submitters, no conflicts	Wolfram syndrome 1	germline unknown	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.360	DEAFNESS, AUTOSOMAL DOMINANT 6	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) AND Rare genetic deafness	ClinVar	Detail
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) AND not provided	ClinVar	Detail
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) AND Monogenic diabetes	ClinVar	Detail
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) AND Inborn genetic diseases	ClinVar	Detail
NM_006005.3(WFS1):c.1886G>A (p.Arg629Gln) AND Wolfram syndrome 1	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: rs146670741 dbSNP
Genome: hg19
Position: chr4:6,303,408-6,303,408
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8650
East Asian Allele Counts (ExAC): 3
East Asian Heterozygous Counts (ExAC): 3
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 3.468208092485549E-4
Chromosome Counts in All Race (ExAC): 121346
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.2963591712953045E-5

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