Preferred Label : EGFR NM_005228.3:c.2153T A;
NCIt synonyms : ERBB c.2153T A; EGFR c.2153T A; NM_005228.3:c.2153T A; ERBB1 c.2153T A; Epidermal Growth Factor Receptor Gene c.2153T A; HER1 c.2153T A;
NCIt definition : A nucleotide substitution at position 2153 of the coding sequence of the EGFR gene
where thymine has been mutated to adenine.;
NCI Metathesaurus CUI : CL545035;
Origin ID : C147019;
UMLS CUI : C4687653;
- Semantic type(s)
- gene_mutant_encodes_gene_product_sequence_variation
- molecular_abnormality_involves_gene