IDH1 NP_005887.2:p.R119Q

Preferred Label : IDH1 NP_005887.2:p.R119Q;

NCIt synonyms : IDH1 p.Arg119Gln; IDH1 R119Q; Cytosolic NADP-Isocitrate Dehydrogenase Protein R119Q; IDH1 p.R119Q; NP_005887.2:p.Arg119Gln; NP_005887.2:p.R119Q; IDH1 NP_005887.2:p.Arg119Gln; Isocitrate Dehydrogenase [NADP] Cytoplasmic Arg119Gln; Isocitrate Dehydrogenase [NADP] Cytoplasmic R119Q; IDH1 Arg119Gln; Cytosolic NADP-Isocitrate Dehydrogenase Protein Arg119Gln;

NCIt definition : A change in the amino acid residue at position 119 in the isocitrate dehydrogenase [NADP] cytoplasmic protein where arginine has been replaced by glutamine.;

NCI Metathesaurus CUI : CL513482;

Details

Origin ID

C131103;

UMLS CUI

C4330389;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
gene_product_sequence_variation_encoded_by_gene_mutant
- IDH1 Gene Mutation [NCIt concept]
- IDH1 NM_005896.3:c.356G>A [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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