IDH1 NP_005887.2:p.R132C

Preferred Label : IDH1 NP_005887.2:p.R132C;

NCIt synonyms : NP_005887.2:p.Arg132Cys; NP_005887.2:p.R132C; IDH1 NP_005887.2:p.Arg132Cys; Isocitrate Dehydrogenase [NADP] Cytoplasmic Arg132Cys; Isocitrate Dehydrogenase [NADP] Cytoplasmic R132C; IDH1 Arg132Cys; Cytosolic NADP-Isocitrate Dehydrogenase Protein Arg132Cys; IDH1 p.Arg132Cys; IDH1 R132C; Cytosolic NADP-Isocitrate Dehydrogenase Protein R132C; IDH1 p.R132C; IDH1 R132C Mutation;

NCIt definition : A change in the amino acid residue at position 132 in the isocitrate dehydrogenase [NADP] cytoplasmic protein where arginine has been replaced by cysteine.;

NCI Metathesaurus CUI : CL513483;

Details

Origin ID

C131099;

UMLS CUI

C4330390;

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
- IDH1 Gene Mutation [NCIt concept]
- IDH1 NM_005896.3:c.394C>T [NCIt concept]
gene_product_variant_of_gene_product
- Isocitrate Dehydrogenase [NADP] Cytoplasmic [NCIt concept]
molecular_abnormality_involves_gene
- IDH1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients