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ATM - ATM serine/threonine kinase
- Synonym(s) : TEL1, TEL1, telomere maintenance 1, homolog (S. cerevisiae), TELO1
- Previous symbols and names : ATA, ATC, ATD, ATDC, ataxia telangiectasia mutated, ataxia telangiectasia mutated (includes complementation groups A, C and D)
- Type : gene with protein product
- Chromosomal location : 11q22.3
- OMIM: 607585
- HGNC: 795
- UniProtKB: Q13315
- Genatlas: ATM
- GenCC: ATM
- Ensembl: ENSG00000149311
- IUPHAR-DB: 1934
- Reactome: Q13315
- LOVD: ATM
Diseases list
- Disease-causing germline mutation(s) in Ataxia-telangiectasia
ORPHA:100 
- Disease-causing germline mutation(s) in Familial colorectal cancer Type X
ORPHA:440437 - Disease-causing germline mutation(s) (loss of function) in Ataxia-telangiectasia variant
ORPHA:370109 - Disease-causing somatic mutation(s) in B-cell chronic lymphocytic leukemia
ORPHA:67038 - Disease-causing somatic mutation(s) in Mantle cell lymphoma
ORPHA:52416 - Major susceptibility factor in Familial prostate cancer
ORPHA:1331
: AssessedAdditional information
Patient-centred resources for this gene
Research activities on this gene
Specialised Social Services
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