Preferred Label : EGFR NM_005228.3:c.323G A;
NCIt synonyms : EGFR c.323G A; NM_005228.3:c.323G A; ERBB c.323G A; Epidermal Growth Factor Receptor Gene c.323G A; ERBB1 c.323G A; HER1 c.323G A;
NCIt definition : A nucleotide substitution at position 323 of the coding sequence of the EGFR gene
where guanine has been mutated to adenine.;
NCI Metathesaurus CUI : CL951279;
SNP ID : rs1057519828;
Origin ID : C159421;
UMLS CUI : C5204419;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene