IDH2 NP_002159.2:p.R172X

Preferred Label : IDH2 NP_002159.2:p.R172X;

NCIt synonyms : IDH2(R172); NP_002159.2:p.Arg172Xxx; Isocitrate Dehydrogenase [NADP ], Mitochondrial R172X; Isocitrate Dehydrogenase [NADP], Mitochondrial Arg172Xxx; IDH2 p.R172; Isocitrate Dehydrogenase 2 (NADP ) Mitochondrial R172X; Isocitrate Dehydrogenase 2 (NADP ) Mitochondrial Arg172Xxx; IDH2 R172X; IDH2 Arg172Xxx; IDH2 p.Arg172Xxx; NP_002159.2:p.R172X; IDH2 R172 Mutation;

NCIt related terms : IDH2 R172;

NCIt definition : A change in the amino acid residue at position 172 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by another amino acid.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

C117282;

UMLS CUI

C3898822;

Molecular abnormality of diseases
- Breast Tall Cell Carcinoma with Reversed Polarity [NCIt concept]
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]

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