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 |
First time submitters |
Register here |
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 |
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 |
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