Preferred Label : EGFR NM_005228.5:c.2240T C;
NCIt synonyms : HER1 c.2240T C; ERBB1 c.2240T C; Epidermal Growth Factor Receptor Gene c.2240T C; ERBB c.2240T C; EGFR c.2240T C; NM_005228.5:c.2240T C;
NCIt definition : A nucleotide substitution at position 2240 of the coding sequence of the EGFR gene
where thymine has been mutated to cytosine.;
NCI Metathesaurus CUI : CL1793664;
SNP ID : rs397517097;
Origin ID : C188732;
UMLS CUI : C5707990;
Semantic type(s)
molecular_abnormality_involves_gene