Preferred Label : EGFR NM_005228.3:c.1793G T;
NCIt synonyms : HER1 c.1793G T; ERBB1 c.1793G T; Epidermal Growth Factor Receptor Gene c.1793G T; ERBB c.1793G T; EGFR c.1793G T; NM_005228.3:c.1793G T;
NCIt definition : A nucleotide substitution at position 1793 of the coding sequence of the EGFR gene
where guanine has been mutated to thymine.;
NCI Metathesaurus CUI : CL951289;
SNP ID : rs139236063;
Origin ID : C159432;
UMLS CUI : C5206937;
- Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene