Preferred Label : Inactivating MTAP Gene Mutation;
NCIt synonyms : Inactivating MSAP Gene Mutation; Loss of Function MTAP Mutation; MTAP Loss of Function Mutation; MTAP Loss of Function Gene Mutation; Loss of Function MTAP Gene Mutation; Inactivating Methylthioadenosine Phosphorylase Gene Mutation;
NCIt definition : A change in the nucleotide sequence of the MTAP gene that either inhibits expression
or results in the translation of an inactive S-methyl-5'-thioadenosine phosphorylase
protein.;
NCI Metathesaurus CUI : CL1778915;
Origin ID : C186505;
UMLS CUI : C5670593;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene