chr4:6301739:G>A Detail (hg38) (WFS1)

Information

Genome

Assembly Position
hg19 chr4:6,303,466-6,303,466 View the variant detail on this assembly version.
hg38 chr4:6,301,739-6,301,739

HGVS

Type Transcript Protein
RefSeq NM_001145853.1:c.1944G>A NP_001139325.1:p.Trp648Ter
NM_006005.3:c.1944G>A NP_005996.2:p.Trp648Ter
Ensemble ENST00000226760.5:c.1944G>A ENST00000226760.5:p.Trp648Ter
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 criteria provided, single submitter Wolfram syndrome 1 germline unknown Detail
Pathogenic 2023-06-22 criteria provided, single submitter not provided 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.1944G>A (p.Trp648Ter) AND Wolfram syndrome 1 ClinVar Detail
NM_006005.3(WFS1):c.1944G>A (p.Trp648Ter) AND not provided 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
rs104893879 dbSNP
Genome
hg38
Position
chr4:6,301,739-6,301,739
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser