IDH1 NP_005887.2:p.R132L

Preferred Label : IDH1 NP_005887.2:p.R132L;

NCIt synonyms : NP_005887.2:p.Arg132Leu; IDH1 NP_005887.2:p.Arg132Leu; Isocitrate Dehydrogenase [NADP] Cytoplasmic Arg132Leu; IDH1 R132L; Cytosolic NADP-Isocitrate Dehydrogenase Protein R132L; IDH1 p.R132L; NP_005887.2:p.R132L; Isocitrate Dehydrogenase [NADP] Cytoplasmic R132L; IDH1 Arg132Leu; Cytosolic NADP-Isocitrate Dehydrogenase Protein Arg132Leu; IDH1 p.Arg132Leu; IDH1 R132L 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in the amino acid residue at position 132 in the isocitrate dehydrogenase [NADP] cytoplasmic protein where arginine has been replaced by leucine.;

NCI Metathesaurus CUI : CL513485;

Details

Origin ID

C131101;

UMLS CUI

C4330391;

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.395G>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) :

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