Preferred Label : Inactivating ERBB2 Gene Mutation;
NCIt synonyms : HER-2 Inactivating Mutation; Loss of Function HER2 Mutation; HER2 Inactivating Mutation; HER2/Neu Inactivating Mutation; Loss of Function ERBB2 Mutation; Inactivating HER2 Mutation; CD340 Inactivating Mutation;
NCIt definition : A change in the nucleotide sequence of the ERBB2 gene that either inhibits expression
of the receptor tyrosine-protein kinase erbB-2 protein or results in the translation
of an inactive receptor tyrosine-protein kinase erbB-2 protein.;
NCI Metathesaurus CUI : CL545865;
Origin ID : C148106;
UMLS CUI : C4688379;
Semantic type(s)
- gene_mutant_encodes_gene_product_sequence_variation
- molecular_abnormality_involves_gene
