chr4:6302130:G>A Detail (hg38) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,303,857-6,303,857 View the variant detail on this assembly version.
hg38 chr4:6,302,130-6,302,130

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.2335G>A NP_001139325.1:p.Val779Met
NM_006005.3:c.2335G>A NP_005996.2:p.Val779Met
Ensemble ENST00000226760.5:c.2335G>A ENST00000226760.5:p.Val779Met
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
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 tgv15958775 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-05-26 criteria provided, multiple submitters, no conflicts not specified germline Detail
Likely benign 2017-04-28 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 6 germline Detail
Likely benign 2017-04-28 criteria provided, single submitter WFS1-Related Spectrum Disorders germline Detail
Benign Likely benign 2024-01-25 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2018-09-07 criteria provided, single submitter Monogenic diabetes unknown Detail
Uncertain risk allele criteria provided, single submitter Wolfram syndrome 1 unknown Detail
Likely benign 2022-04-25 criteria provided, single submitter Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus,Wolfram-like syndrome,Autosomal dominant nonsyndromic hearing loss 6 unknown Detail
Likely benign 2022-04-25 criteria provided, single submitter Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus,Wolfram-like syndrome,Autosomal dominant nonsyndromic hearing loss 6 unknown Detail
Likely benign 2022-04-25 criteria provided, single submitter Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus,Wolfram-like syndrome,Autosomal dominant nonsyndromic hearing loss 6 unknown Detail
Likely benign 2022-04-25 criteria provided, single submitter Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus,Wolfram-like syndrome,Autosomal dominant nonsyndromic hearing loss 6 unknown Detail
Likely benign 2022-04-25 criteria provided, single submitter Wolfram syndrome 1,cataract 41,type 2 diabetes mellitus,Wolfram-like syndrome,Autosomal dominant nonsyndromic hearing loss 6 unknown 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
Annotation

Annotations

DescrptionSourceLinks
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) AND not specified ClinVar Detail
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) AND Autosomal dominant nonsyndromic hearing loss 6 ClinVar Detail
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) AND WFS1-Related Spectrum Disorders ClinVar Detail
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) AND not provided ClinVar Detail
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) AND Monogenic diabetes ClinVar Detail
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) AND Wolfram syndrome 1 ClinVar Detail
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.2335G>A (p.Val779Met) AND multiple conditions ClinVar Detail
The DFNA6/14 critical region includes WFS1, the gene responsible for Wolfram syndrome, an autosomal ... 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
rs141328044 dbSNP
Genome
hg38
Position
chr4:6,302,130-6,302,130
Variant Type
snv
Reference Allele
G
Alternative Allele
A
East Asian Chromosome Counts (ExAC)
8528
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)
116990
Allele Counts in All Race (ExAC)
258
Heterozygous Counts in All Race (ExAC)
254
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
0.002205316693734507
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