Preferred Label : EGFR NM_005228.5:c.2500G T;
NCIt synonyms : ERBB1 c.2500G T; Epidermal Growth Factor Receptor Gene c.2500G T; ERBB c.2500G T; EGFR c.2500G T; NM_005228.5:c.2500G T; HER1 c.2500G T;
NCIt definition : A nucleotide substitution at position 2500 of the coding sequence of the EGFR gene
where guanine has been mutated to thymine.;
NCI Metathesaurus CUI : CL1412659;
SNP ID : rs397517127;
Origin ID : C175354;
UMLS CUI : C5446463;
- Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene