Preferred Label : EGFR NM_005228.5:c.2491C T;
NCIt synonyms : HER1 c.2491C T; ERBB1 c.2491C T; Epidermal Growth Factor Receptor Gene c.2491C T; ERBB c.2491C T; EGFR c.2491C T; NM_005228.5:c.2491C T;
NCIt definition : A nucleotide substitution at position 2491 of the coding sequence of the EGFR gene
where cytosine has been mutated to thymine.;
NCI Metathesaurus CUI : CL1643191;
SNP ID : rs371228501;
Origin ID : C177463;
UMLS CUI : C5447784;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene