Preferred Label : Activating ERBB2 Point Mutation;
NCIt synonyms : Activating HER2 Point Mutation; ERBB2 Activating Point Mutation; HER2/Neu Activating Point Mutation; CD340 Activating Point Mutation; Activating ERBB2 Gene Point Mutation; HER-2 Activating Point Mutation; c-erbB2 Activating Point Mutation; HER2 Activating Point Mutation;
NCIt definition : A point mutation in the nucleotide sequence of the ERBB2 gene that that results in
constitutive receptor tyrosine-protein kinase erbB-2-dependent signal transduction
and activation of downstream signaling pathways.;
NCI Metathesaurus CUI : CL972381;
Origin ID : C167151;
UMLS CUI : C5238312;
Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene
