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.