The ATM gene homepage

General information
Gene symbol ATM
Gene name ataxia telangiectasia mutated
Chromosome 11
Chromosomal band q22-q23
Imprinted Not imprinted
Genomic reference LRG_135
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 5612
Unique public DNA variants reported 3013
Individuals with public variants 14262
Hidden variants 62
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 October 21, 2021
Version ATM:211021

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
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
Orphanet ATM


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000155 11 ataxia telangiectasia mutated NM_000051.3 NP_000042.3 5612


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