Preferred Label : EGFR NM_005228.5:c.2318A G;
NCIt synonyms : HER1 c.2318A G; ERBB1 c.2318A G; Epidermal Growth Factor Receptor Gene c.2318A G; ERBB c.2318A G; EGFR c.2318A G; NM_005228.5:c.2318A G;
NCIt definition : A nucleotide substitution at position 2318 of the coding sequence of the EGFR gene
where adenine has been mutated to guanine.;
NCI Metathesaurus CUI : CL1793669;
SNP ID : rs121913432;
Origin ID : C188735;
UMLS CUI : C5707993;
Semantic type(s)
molecular_abnormality_involves_gene