Preferred Label : EGFR NM_005228.5:c.2582T C;
NCIt synonyms : HER1 c.2582T C; ERBB1 c.2582T C; Epidermal Growth Factor Receptor Gene c.2582T C; ERBB c.2582T C; EGFR c.2582T C; NM_005228.5:c.2582T C;
NCIt definition : A nucleotide substitution at position 2582 of the coding sequence of the EGFR gene
where thymine has been mutated to cytosine.;
NCI Metathesaurus CUI : CL1662121;
SNP ID : rs121913444;
Origin ID : C179543;
UMLS CUI : C5555755;
- Semantic type(s)
- concept_is_in_subset
- molecular_abnormality_involves_gene