ATM gene homepage

General information
Gene symbol ATM
Gene name ataxia telangiectasia mutated
Chromosome 11
Chromosomal band q22-q23
Imprinted Not imprinted
Genomic reference NG_009830.1
Transcript reference NM_000051.3
Exon/intron information NM_000051.3 exon/intron table
Associated with diseases AT, cancer, breast, familial
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Patrick Concannon
Total number of public variants reported 2243
Unique public DNA variants reported 1115
Individuals with public variants 6754
Hidden variants 11
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created June 22, 2006
Date last updated December 08, 2018
Version ATM:181208

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_000051.3.
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/ATM
External URL Orphanet
HGNC 795
Entrez Gene 472
PubMed articles ATM
OMIM - Gene 607585
OMIM - Diseases AT (ataxia-telangiectasia (AT))
cancer, breast, familial
HGMD ATM
GeneCards ATM
GeneTests ATM


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000155 11 ataxia telangiectasia mutated NM_000051.3 NP_000042.3 2243


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2006-2018. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.