chr4:6304008:T>C 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	chr4:6,304,008-6,304,008
hg38	chr4:6,302,281-6,302,281 View the variant detail on this assembly version.

HGVS

WFS1

Type	Transcript	Protein
RefSeq	NM_001145853.1:c.2486T>C	NP_001139325.1:p.Leu829Pro
	NM_006005.3:c.2486T>C	NP_005996.2:p.Leu829Pro
Ensemble	ENST00000226760.5:c.2486T>C	ENST00000226760.5:p.Leu829Pro
	ENST00000503569.5:c.2486T>C	ENST00000503569.5:p.Leu829Pro
	ENST00000506362.2:c.2237T>C	ENST00000506362.2:p.Leu746Pro
	ENST00000673991.1:c.2522T>C	ENST00000673991.1:p.Leu841Pro
	ENST00000682275.1:c.2522T>C	ENST00000682275.1:p.Leu841Pro
	ENST00000684087.1:c.2486T>C	ENST00000684087.1:p.Leu829Pro

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic 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
Pathogenic	2024-03-06	no assertion criteria provided	Autosomal dominant nonsyndromic hearing loss 6	germline	Detail
Pathogenic Likely pathogenic	2023-10-13	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Likely pathogenic	2019-10-04	criteria provided, single submitter	Inborn genetic diseases	germline	Detail
Pathogenic	2023-02-03	criteria provided, single submitter	Wolfram syndrome 1	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.2486T>C (p.Leu829Pro) AND Autosomal dominant nonsyndromic hearing loss 6	ClinVar	Detail
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) AND not provided	ClinVar	Detail
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) AND Inborn genetic diseases	ClinVar	Detail
NM_006005.3(WFS1):c.2486T>C (p.Leu829Pro) 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: rs104893883 dbSNP
Genome: hg19
Position: chr4:6,304,008-6,304,008
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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