IDH2 NP_002159.2:p.R140X

Preferred Label : IDH2 NP_002159.2:p.R140X;

NCIt synonyms : Isocitrate Dehydrogenase [NADP], Mitochondrial R140X; NP_002159.2:p.Arg140Xxx; Isocitrate Dehydrogenase [NADP], Mitochondrial Arg140Xxx; IDH2 p.R140; Isocitrate Dehydrogenase 2 (NADP ) Mitochondrial R140X; Isocitrate Dehydrogenase 2 (NADP ) Mitochondrial Arg140Xxx; IDH2 R140X; IDH2 Arg140Xxx; IDH2 p.Arg140Xxx; NP_002159.2:p.R140X; IDH2 R140 Mutation;

NCIt related terms : IDH2 R140;

NCIt definition : A change in the amino acid residue at position 140 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by another amino acid. Mutations at this position are found in patients with acute myeloid leukemia following myelodysplastic syndromes and is associated with shorter overall survival.;

Details

Origin ID

C117281;

UMLS CUI

C3898823;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CPTAC Acute Myeloid Leukemia Baseline Form [NCIt concept]
- CPTAC Baseline Medical Forms Terminology [NCIt concept]
- CPTAC Terminology [NCIt concept]
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_product_sequence_variation_encoded_by_gene_mutant
- IDH2 Gene Mutation [NCIt concept]
gene_product_variant_of_gene_product
- Isocitrate Dehydrogenase [NADP], Mitochondrial [NCIt concept]
molecular_abnormality_involves_gene
- IDH2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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