Preferred Label : IDH1 NM_005896.3:c.394C G;
NCIt synonyms : Isocitrate Dehydrogenase 1 (NADP ), Soluble c.394C G; Isocitrate Dehydrogenase (NADP( )) 1, Cytosolic c.394C G; IDH c.394C G; NM_005896.3:c.394C G; IDH1 c.394C G;
NCIt related terms : C394G;
NCIt definition : A nucleotide substitution at position 394 of the coding sequence of the IDH1 gene
where cytosine has been mutated to guanine.;
NCI Metathesaurus CUI : CL513475;
SNP ID : rs121913499;
Origin ID : C131096;
UMLS CUI : C4330385;
Semantic type(s)
gene_mutant_encodes_gene_product_sequence_variation
molecular_abnormality_involves_gene