chr4:6301467:C>T Detail (hg38) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,303,194-6,303,194 View the variant detail on this assembly version.
hg38 chr4:6,301,467-6,301,467

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.1672C>T NP_001139325.1:p.Arg558Cys
NM_006005.3:c.1672C>T NP_005996.2:p.Arg558Cys
Ensemble ENST00000226760.5:c.1672C>T ENST00000226760.5:p.Arg558Cys
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
COSMIC COSM3726989 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2024-01-17 criteria provided, conflicting interpretations not provided germline Detail
Likely pathogenic 2016-05-11 criteria provided, single submitter Wolfram syndrome germline Detail
Uncertain significance 2017-09-05 criteria provided, single submitter not specified germline Detail
Pathogenic 2018-10-10 criteria provided, single submitter WFS1-Related Spectrum Disorders germline Detail
Pathogenic no assertion criteria provided diabetes mellitus unknown Detail
Pathogenic Likely pathogenic 2022-10-25 criteria provided, multiple submitters, no conflicts Wolfram syndrome 1 germline unknown Detail
Uncertain significance 2022-06-10 criteria provided, single submitter type 2 diabetes mellitus germline Detail
Likely pathogenic 2023-11-25 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
Annotation

Annotations

DescrptionSourceLinks
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) AND not provided ClinVar Detail
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) AND Wolfram syndrome ClinVar Detail
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) AND not specified ClinVar Detail
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) AND WFS1-Related Spectrum Disorders ClinVar Detail
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) AND Diabetes mellitus ClinVar Detail
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) AND Wolfram syndrome 1 ClinVar Detail
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) AND Type 2 diabetes mellitus ClinVar Detail
NM_006005.3(WFS1):c.1672C>T (p.Arg558Cys) AND WFS1-related disorder 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
rs199946797 dbSNP
Genome
hg38
Position
chr4:6,301,467-6,301,467
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8650
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)
121240
Allele Counts in All Race (ExAC)
59
Heterozygous Counts in All Race (ExAC)
57
Homozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
4.8663807324315407E-4
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