Preferred Label : EGFR NM_005228.5:c.2497T G;
NCIt synonyms : HER1 c.2497T G; ERBB1 c.2497T G; Epidermal Growth Factor Receptor Gene c.2497T G; ERBB c.2497T G; EGFR c.2497T G; NM_005228.5:c.2497T G;
NCIt definition : A nucleotide substitution at position 2497 of the coding sequence of the EGFR gene
where thymine has been mutated to guanine.;
NCI Metathesaurus CUI : CL1412665;
SNP ID : rs397517126;
Origin ID : C175352;
UMLS CUI : C5446461;
- Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene