LOVD WFS1 homepage

General information
Gene name Wolfram syndrome 1 (wolframin)
Gene symbol WFS1
Chromosome Location 4p16
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the WFS1 database
Date of creation March 11, 2010
Last update April 23, 2010
Version WFS1 100423
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 256
Total number of individuals with variant(s) 2
Total number of variants reported 256
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the WFS1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the WFS1 database, without patient data
Complete sequence variant listing Listing of all sequence variants in the WFS1 database
Variants with no known pathogenicity Listing of all WFS1 variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
External link #1 http://khri2.khri.med.umich.edu/research/lesperance_lab/low_freq.php
Entrez Gene 7466
OMIM - Gene 606201
UniProtKB (SwissProt/TrEMBL) O76024
HGMD WFS1
GeneCards WFS1
GeneTests WFS1

Editors: Theru A. Sivakumaran, Ph.D. Molecular Genetics Laboratory Department of Human Genetics Cincinnati Children's Hospital Medical Center 3333 Burnet Ave. Cincinnati, Ohio Phone: 513-636-4475