chr4:6303693:C>T Detail (hg19) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,303,693-6,303,693
hg38 chr4:6,301,966-6,301,966 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.2171C>T NP_001139325.1:p.Pro724Leu
NM_006005.3:c.2171C>T NP_005996.2:p.Pro724Leu
Ensemble ENST00000503569.5:c.2171C>T ENST00000503569.5:p.Pro724Leu
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 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
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Wolfram syndrome germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1998-10-01 no assertion criteria provided Wolfram syndrome 1 germline Detail
Conflicting interpretations of pathogenicity 2023-07-11 criteria provided, conflicting interpretations not provided germline unknown 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.2171C>T (p.Pro724Leu) AND Wolfram syndrome 1 ClinVar Detail
NM_006005.3(WFS1):c.2171C>T (p.Pro724Leu) AND not provided 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
rs28937890 dbSNP
Genome
hg19
Position
chr4:6,303,693-6,303,693
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8468
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1809163911195088E-4
Chromosome Counts in All Race (ExAC)
116660
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.571575518601063E-5
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