Preferred Label : ATM Biallelic Inactivation;
NCIt synonyms : AT Mutated Biallelic Gene Inactivation; ATM Serine/Threonine Kinase Biallelic Gene Inactivation; Ataxia Telangiectasia Mutated Biallelic Gene Inactivation; ATM Biallelic Gene Inactivation; A-T Mutated Gene Deletion;
NCIt definition : The presence of mutations in both alleles of the ATM gene that either lead to loss
of expression of the ATM protein or result in the translation of an inactive ATM protein.;
NCI Metathesaurus CUI : CL540197;
Origin ID : C142120;
UMLS CUI : C4552801;
Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene
