chr4:6301879:G>T Detail (hg38) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,303,606-6,303,606 View the variant detail on this assembly version.
hg38 chr4:6,301,879-6,301,879

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.2084G>T NP_001139325.1:p.Gly695Val
NM_006005.3:c.2084G>T NP_005996.2:p.Gly695Val
Ensemble ENST00000226760.5:c.2084G>T ENST00000226760.5:p.Gly695Val
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1998-10-01 no assertion criteria provided Wolfram syndrome 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.626 Wolfram syndrome NA CLINVAR Detail
0.626 Wolfram syndrome Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were ... UNIPROT 9771706 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_006005.3(WFS1):c.2084G>T (p.Gly695Val) AND Wolfram syndrome 1 ClinVar Detail
NA DisGeNET Detail
Mutations in a novel gene (WFS1) encoding a putative transmembrane protein were found in all affecte... 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
rs28937891 dbSNP
Genome
hg38
Position
chr4:6,301,879-6,301,879
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Genome browser