LOVD WAS homepage

General information
Gene name Wiskott-Aldrich syndrome (eczema-thrombocytopenia)
Gene symbol WAS
Chromosome Location Xp11.4-p11.21
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the WAS database
Date of creation April 19, 2010
Last update April 23, 2010
Version WAS100423
Add sequence variant Submit a sequence variant
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007877.1
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 132
Total number of individuals with variant(s) 2
Total number of variants reported 135
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the WAS 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 WAS database, without patient data
Complete sequence variant listing Listing of all sequence variants in the WAS database
Variants with no known pathogenicity Listing of all WAS 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 WASbase: Mutation registry for Wiskott-Aldrich syndrome (WAS) Mauno Vihinen, Univ. of Tampere, Tampere, Finland
HGNC 12731
Entrez Gene 7454
OMIM - Gene 300392
UniProtKB (SwissProt/TrEMBL) P42768
HGMD WAS
GeneCards WAS
GeneTests WAS