Preferred Label : IDH2 NM_002168.3:c.514A G;
NCIt synonyms : IDH c.514A G; NM_002168.3:c.514A G; Isocitrate Dehydrogenase 2 (NADP ), Mitochondrial c.514A G; IDH2 c.514A G; Isocitrate Dehydrogenase (NADP( )) 2, Mitochondrial c.514A G;
NCIt related terms : A514G;
NCIt definition : A nucleotide substitution at position 514 of the coding sequence of the IDH2 gene
where adenine has been mutated to guanine.;
NCI Metathesaurus CUI : CL513469;
SNP ID : rs1057519906;
Origin ID : C131108;
UMLS CUI : C4330393;
- Semantic type(s)
- gene_mutant_encodes_gene_product_sequence_variation
- molecular_abnormality_involves_gene