Preferred Label : Germline ATM Gene Mutation;
NCIt synonyms : Germline ATM Serine/Threonine Kinase Gene Mutation; Germline Ataxia Telangiectasia Mutated Gene Mutation; Germline AT Mutated Gene Mutation; Germline A-T Mutated Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the ATM gene that originates in the gametes.;
NCI Metathesaurus CUI : CL1922636;
Origin ID : C203399;
UMLS CUI : C5909223;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene