Preferred Label : Activating EGFR Exon 21 Mutation;
NCIt synonyms : Gain of Function EGFR Exon 21 Mutation; Gain of Function EGFR Exon 21 Gene Mutation; Activating HER1 Exon 21 Mutation; EGFR Exon 21 Activating Mutation; EGFR Exon 21 Gain of Function Gene Mutation; Activating Epidermal Growth Factor Receptor Exon 21 Mutation; Activating ERBB Exon 21 Mutation; Activating EGFR Exon 21 Gene Mutation; EGFR Exon 21 Gain of Function Mutation; Activating ERBB1 Exon 21 Mutation; EGFR Exon 21 Activating Gene Mutation;
NCIt definition : A molecular genetic abnormality indicating the presence of a mutation in exon 21 of
the EGFR gene that results in constitutive epidermal growth factor receptor-dependent
signal transduction and activation of downstream signaling pathways.;
NCI Metathesaurus CUI : CL1663538;
Origin ID : C180963;
UMLS CUI : C5556755;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene