chr4:6301846:C>T Detail (hg38) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,303,573-6,303,573 View the variant detail on this assembly version.
hg38 chr4:6,301,846-6,301,846

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.2051C>T NP_001139325.1:p.Ala684Val
NM_006005.3:c.2051C>T NP_005996.2:p.Ala684Val
Ensemble ENST00000226760.5:c.2051C>T ENST00000226760.5:p.Ala684Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance 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
COSMIC COSM6822546 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-09-13 criteria provided, multiple submitters, no conflicts Wolfram-like syndrome de novo germline Detail
Pathogenic 2011-06-01 no assertion criteria provided Wolfram syndrome 1 germline Detail
Pathogenic 2024-01-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2017-03-26 criteria provided, single submitter Rare genetic deafness,Wolfram syndrome 1 germline Detail
Pathogenic 2017-03-26 criteria provided, single submitter Rare genetic deafness,Wolfram syndrome 1 germline Detail
Pathogenic 2017-08-24 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2022-05-22 criteria provided, single submitter Autosomal dominant nonsyndromic hearing loss 6 germline Detail
Pathogenic 2022-04-29 criteria provided, single submitter WFS1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.626 Wolfram syndrome NA CLINVAR Detail
<0.001 Optic Atrophy, Autosomal Dominant Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause... BeFree 21538838 Detail
0.017 Sensorineural Hearing Loss (disorder) Importantly, our data provide the first evidence that a single, recurrent mutati... BeFree 21538838 Detail
0.004 Sensorineural Hearing Loss (disorder) Importantly, our data provide the first evidence that a single, recurrent mutati... BeFree 21538838 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) AND Wolfram-like syndrome ClinVar Detail
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) AND Wolfram syndrome 1 ClinVar Detail
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) AND not provided ClinVar Detail
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) AND multiple conditions ClinVar Detail
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) AND Inborn genetic diseases ClinVar Detail
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) AND Autosomal dominant nonsyndromic hearing loss 6 ClinVar Detail
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val) AND WFS1-related disorder ClinVar Detail
NA DisGeNET Detail
Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal domina... DisGeNET Detail
Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V,... DisGeNET Detail
Importantly, our data provide the first evidence that a single, recurrent mutation in WFS1, p.A684V,... 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
rs387906930 dbSNP
Genome
hg38
Position
chr4:6,301,846-6,301,846
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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