NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln) AND Pyruvate kinase deficiency of red cells
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003318511.3
Allele description [Variation Report for NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln)]
NM_000298.6(PKLR):c.1277G>A (p.Arg426Gln)
Condition(s)
- Name:
- Pyruvate kinase deficiency of red cells
- Synonyms:
- PYRUVATE KINASE DEFICIENCY OF ERYTHROCYTE; Pyruvate kinase deficiency; Pyruvate kinase deficiency of erythrocytes; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009950; MedGen: C0340968; Orphanet: 766; OMIM: 266200
Assertion and evidence details
Last Updated: Aug 4, 2024