Preferred Label : IDH2 NM_002168.3:c.516G C;
NCIt synonyms : IDH c.516G C; NM_002168.3:c.516G C; IDH2 c.516G C; Isocitrate Dehydrogenase 2 (NADP ), Mitochondrial c.516G C; Isocitrate Dehydrogenase (NADP( )) 2, Mitochondrial c.516G C;
NCIt definition : A nucleotide substitution at position 516 of the coding sequence of the IDH2 gene
where guanine has been mutated to cytosine.;
NCI Metathesaurus CUI : CL969656;
SNP ID : rs1057519736;
Origin ID : C160663;
UMLS CUI : C5205444;
Semantic type(s)
concept_is_in_subset
molecular_abnormality_involves_gene