IDH2 NP_002159.2:p.R172W

Preferred Label : IDH2 NP_002159.2:p.R172W;

NCIt synonyms : Isocitrate Dehydrogenase [NADP], Mitochondrial R172W; IDH2 NP_002159.2:p.Arg172Trp; Isocitrate Dehydrogenase 2 (NADP ) Mitochondrial Arg172Trp; Isocitrate Dehydrogenase 2 (NADP ) Mitochondrial R172W; IDH2 Arg172Trp; IDH2 R172W; IDH2 p.Arg172Trp; NP_002159.2:p.Arg172Trp; NP_002159.2:p.R172W; Isocitrate Dehydrogenase [NADP], Mitochondrial Arg172Trp; IDH2 R172W Mutation;

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the amino acid residue at position 172 in the isocitrate dehydrogenase [NADP], mitochondrial protein where arginine has been replaced by tryptophan.;

NCI Metathesaurus CUI : CL538485;

Details

Origin ID

C140414;

UMLS CUI

C4682930;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Disease 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]
- IDH2 NM_002168.3:c.514A>T [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) :

You can consult :

recommendations
documents concerning education
documents for patients