Preferred Label : ATM Monoallelic Inactivation;
NCIt synonyms : AT Mutated Monoallelic Gene Inactivation; ATM Serine/Threonine Kinase Monoallelic Gene Inactivation; Ataxia Telangiectasia Mutated Monoallelic Gene Inactivation; ATM Monoallelic Gene Inactivation; A-T Mutated Monoallelic Gene Inactivation; ATM Gene LOH; ATM Loss of Heterozygosity; ATM LOH; ATM Gene Loss of Heterozygosity;
NCIt definition : The presence of mutations in only one allele of the ATM gene that either lead to decreased
of expression of the ATM protein or result in the translation of an inactive and potentially
dominant-negative form of the ATM protein.;
NCI Metathesaurus CUI : CL552338;
Origin ID : C150584;
UMLS CUI : C4725851;
Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene
