Preferred Label : ERBB2 NM_004448.4:c.2264T C;
NCIt synonyms : HER2 c.2264T C; NEU c.2264T C; ERBB2 c.2264T C; HER-2/neu c.2264T C; NM_004448.4:c.2264T C; Erb-b2 Receptor Tyrosine Kinase 2 c.2264T C; HER-2 c.2264T C;
NCIt definition : A nucleotide substitution at position 2264 of the coding sequence of the ERBB2 gene
where thymine has been mutated to cytosine.;
NCI Metathesaurus CUI : CL1791938;
SNP ID : rs121913470;
Origin ID : C187151;
UMLS CUI : C5706908;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene