Non-synonymous PKLR Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A point mutation in the PKLR gene that encodes an amino acid substitution in the pyruvate kinase PKLR protein.

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