chr4:6301941:G>A Detail (hg38) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,303,668-6,303,668 View the variant detail on this assembly version.
hg38 chr4:6,301,941-6,301,941

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.2146G>A NP_001139325.1:p.Ala716Thr
NM_006005.3:c.2146G>A NP_005996.2:p.Ala716Thr
Ensemble ENST00000226760.5:c.2146G>A ENST00000226760.5:p.Ala716Thr
Summary

MGeND

Clinical significance Pathogenic
Variant entry 1
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 Pathogenic Likely pathogenic
Review star
Show details
Links
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 tgv194745425 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2015/07/06 other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2007-01-01 no assertion criteria provided Autosomal dominant nonsyndromic hearing loss 6 germline Detail
Pathogenic Likely pathogenic 2023-07-12 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2016-08-16 criteria provided, single submitter Rare genetic deafness germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.360 DEAFNESS, AUTOSOMAL DOMINANT 6 The DFNA6/14 critical region includes WFS1, the gene responsible for Wolfram syn... UNIPROT 11709537 Detail
0.626 Wolfram syndrome NA CLINVAR Detail
0.360 DEAFNESS, AUTOSOMAL DOMINANT 6 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) AND Autosomal dominant nonsyndromic hearing loss 6 ClinVar Detail
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) AND not provided ClinVar Detail
NM_006005.3(WFS1):c.2146G>A (p.Ala716Thr) AND Rare genetic deafness ClinVar Detail
The DFNA6/14 critical region includes WFS1, the gene responsible for Wolfram syndrome, an autosomal ... DisGeNET Detail
NA DisGeNET 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
rs28937893 dbSNP
Genome
hg38
Position
chr4:6,301,941-6,301,941
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8494
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)
117622
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)
8.501810885718658E-6
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