Preferred Label : EGFR NM_005228.5:c.2224G A;
NCIt synonyms : NM_005228.5:c.2224G A; HER1 c.2224G A; ERBB1 c.2224G A; Epidermal Growth Factor Receptor Gene c.2224G A; ERBB c.2224G A; EGFR c.2224G A;
NCIt definition : A nucleotide substitution at position 2224 of the coding sequence of the EGFR gene
where guanine has been mutated to adenine.;
NCI Metathesaurus CUI : CL1643178;
SNP ID : rs587778250;
Origin ID : C177468;
UMLS CUI : C5444032;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene