chr4:6304112: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	chr4:6,304,112-6,304,112
hg38	chr4:6,302,385-6,302,385 View the variant detail on this assembly version.

HGVS

WFS1

Type	Transcript	Protein
RefSeq	NM_001145853.1:c.2590G>A	NP_001139325.1:p.Glu864Lys
	NM_006005.3:c.2590G>A	NP_005996.2:p.Glu864Lys
Ensemble	ENST00000226760.5:c.2590G>A	ENST00000226760.5:p.Glu864Lys
	ENST00000506362.2:c.2341G>A	ENST00000506362.2:p.Glu781Lys
	ENST00000503569.5:c.2590G>A	ENST00000503569.5:p.Glu864Lys
	ENST00000673991.1:c.2626G>A	ENST00000673991.1:p.Glu876Lys
	ENST00000682275.1:c.2626G>A	ENST00000682275.1:p.Glu876Lys
	ENST00000684087.1:c.2590G>A	ENST00000684087.1:p.Glu864Lys

Summary

MGeND

Clinical significance	Pathogenic
Variant entry	4
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
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

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Pathogenic	2017/03/30	other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic	2015/07/06	other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		other	germline	MGS000001 (TMGS000154)	Kenjiro Kosaki	Keio University

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Likely pathogenic	2022-04-05	criteria provided, single submitter	Wolfram-like syndrome	germline	Detail
Pathogenic	2018-05-07	no assertion criteria provided	Autosomal dominant nonsyndromic hearing loss 6	germline unknown	Detail
Pathogenic	2024-01-22	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2021-01-05	criteria provided, single submitter	Rare genetic deafness	germline	Detail
Pathogenic	2021-05-27	no assertion criteria provided	Wolfram syndrome 1	germline	Detail
Likely pathogenic	2021-07-15	criteria provided, single submitter	Nonsyndromic genetic hearing loss	germline	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.2590G>A (p.Glu864Lys) AND Wolfram-like syndrome	ClinVar	Detail
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) AND Autosomal dominant nonsyndromic hearing loss 6	ClinVar	Detail
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) AND not provided	ClinVar	Detail
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) AND Rare genetic deafness	ClinVar	Detail
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) AND Wolfram syndrome 1	ClinVar	Detail
NM_006005.3(WFS1):c.2590G>A (p.Glu864Lys) AND Nonsyndromic genetic hearing loss	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: rs74315205 dbSNP
Genome: hg19
Position: chr4:6,304,112-6,304,112
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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