Non-synonymous PKLR Gene Mutation

Preferred Label : Non-synonymous PKLR Gene Mutation;

NCIt synonyms : Non-synonymous Pyruvate Kinase L/R Gene Mutation; Non-synonymous RPK Gene Mutation; PKLR Missense Mutation; Non-synonymous PKL Gene Mutation; Non-synonymous PKRL Gene Mutation; Non-synonymous PK1 Gene Mutation; Non-synonymous PKR Gene Mutation; Non-synonymous Pyruvate Kinase, Liver and RBC Gene Mutation; PKLR Missense Gene Mutation;

NCIt definition : A point mutation in the PKLR gene that encodes an amino acid substitution in the pyruvate kinase PKLR protein.;

NCI Metathesaurus CUI : CL936909;

Details

Origin ID

C157142;

UMLS CUI

C4763435;

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]
molecular_abnormality_involves_gene
- PKLR Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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