PKLR NP_000289.1:p.R479H

Preferred Label : PKLR NP_000289.1:p.R479H;

NCIt synonyms : Pyruvate Kinase L/R R479H; Pyruvate Kinase Isozymes R/L R479H; Pyruvate Kinase Isozymes L/R R479H; NP_000289.1:p.R479H; PKLR Arg479His; R-Type/L-Type Pyruvate Kinase R479H; PKLR p.Arg479His; Pyruvate Kinase L/R Arg479His; Pyruvate Kinase Isozymes L/R Arg479His; NP_000289.1:p.Arg479His; Pyruvate Kinase Isozymes R/L Arg479His; R-Type/L-Type Pyruvate Kinase Arg479His; Red Cell/Liver Pyruvate Kinase R479H; Pyruvate Kinase Isozyme R/L R479H; Pyruvate Kinase PKLR R479H; Pyruvate Kinase 1 R479H; Red Cell/Liver Pyruvate Kinase Arg479His; Pyruvate Kinase Isozyme R/L Arg479His; Pyruvate Kinase PKLR Arg479His; PKLR NP_000289.1:p.Arg479His; Pyruvate Kinase 1 Arg479His; PKLR R479H Mutation; PKLR R479H; PKLR p.R479H;

NCIt definition : A change in the amino acid residue at position 479 in the pyruvate kinase PKLR protein where arginine has been replaced by histidine.;

NCI Metathesaurus CUI : CL937582;

Details

Origin ID

C158053;

UMLS CUI

C4764013;

Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
concept_is_in_subset
- CTRP Biomarker Terminology [NCIt concept]
- CTRP Molecular Genetic Biomarker Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
gene_product_variant_of_gene_product
- PKLR Gene Product [NCIt concept]

Keyword's position in hierarchy(ies) :

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