LOVD ATM homepage

General information
Gene name Ataxia Telangiectasia Mutated
Gene symbol ATM
Chromosome Location 11q22-q23
Database location chromium.liacs.nl
Curator Patrick Concannon
PubMed references View all (unique) PubMed references in the ATM database
Date of creation June 22, 2006
Last update November 23, 2007
Version ATM071123
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Reference sequence coding DNA reference sequence for describing sequence variants
Total number of unique DNA variants reported 432
Total number of individuals with variant(s) 694
Total number of variants reported 1053
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NOTE Under construction - incomplete - for test purposes only !

Graphical displays and utilities
Summary tables Summary of all sequence variants in the ATM database, sorted by type of variant (with graphical displays and statistics)

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the ATM database, without patient data
Complete sequence variant listing Listing of all sequence variants in the ATM database
Variants with no known pathogenicity Listing of all ATM 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
Search through hidden entries Find the number of variant entries in the database (including hidden entries) matching your search terms.

Links to other resources
Entrez Gene 472
OMIM - Gene 607585
OMIM - Disease AT
HGMD ATM
GeneTests ATM