The WFS1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol WFS1
Gene name Wolfram syndrome 1 (wolframin)
Chromosome 4
Chromosomal band p16.1
Imprinted Unknown
Genomic reference NC_000004.11
Transcript reference NM_006005.3
Exon/intron information NM_006005.3 exon/intron table
Associated with diseases CTRCT41, DFNA6, NIDDM, WFS1, WFSL
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Marc Ferre
Total number of public variants reported 998
Unique public DNA variants reported 667
Individuals with public variants 500
Hidden variants 34
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created May 27, 2011
Date last updated March 29, 2024
Version WFS1:240329

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_006005.3.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/WFS1
HGNC 12762
Entrez Gene 7466
PubMed articles WFS1
OMIM - Gene 606201
OMIM - Diseases CTRCT41 (cataract, type 41 (CTRCT-41, congenital nuclear type))
DFNA6 (Deafness, autosomal dominant, type A6)
NIDDM (diabetes mellitus, type II (NIDDM))
WFS1 (Wolfram syndrome, type 1 (WFS1))
WFSL (Wolfram-like syndrome, autosomal dominant (WFSL))
HGMD WFS1
GeneCards WFS1
GeneTests WFS1
Orphanet WFS1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023835 4 transcript variant 1 NM_006005.3 NP_005996.2 998


Copyright & disclaimer
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