IDH1 NM_005896.3:c.394C A

Preferred Label : IDH1 NM_005896.3:c.394C A;

NCIt synonyms : Isocitrate Dehydrogenase 1 (NADP ), Soluble c.394C A; Isocitrate Dehydrogenase (NADP( )) 1, Cytosolic c.394C A; IDH c.394C A; NM_005896.3:c.394C A; IDH1 c.394C A;

NCIt related terms : C394A;

NCIt definition : A nucleotide substitution at position 394 of the coding sequence of the IDH1 gene where cytosine has been mutated to adenine.;

NCI Metathesaurus CUI : CL513474;

SNP ID : rs121913499;

Details

Origin ID

C131093;

UMLS CUI

C4330384;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_mutant_encodes_gene_product_sequence_variation
- IDH1 NP_005887.2:p.R132S [NCIt concept]
- IDH1 Protein Variant [NCIt concept]
molecular_abnormality_involves_gene
- IDH Gene Family [NCIt concept]
- IDH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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