Variant: rs1057516541

present in Gene: ATM present in Chromosome: 11 Position on Chromosome: 108284359 Alleles of this Variant: -/A

rs1057516541 in ATM gene and Ataxia Telangiectasia PMID 21778326 2011 Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.

rs1057516541 in ATM gene and Neoplastic Syndromes, Hereditary PMID 21778326 2011 Functional characterization connects individual patient mutations in ataxia telangiectasia mutated (ATM) with dysfunction of specific DNA double-strand break-repair signaling pathways.