NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly) AND Propionic acidemia
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 25, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003848196.1
Allele description [Variation Report for NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)]
NM_000532.5(PCCB):c.1126C>G (p.Arg376Gly)
Condition(s)
- Name:
- Propionic acidemia (PROP)
- Synonyms:
- Glycinemia, ketotic; Hyperglycinemia with ketoacidosis and leukopenia; Ketotic hyperglycinemia
- Identifiers:
- MONDO: MONDO:0011628; MedGen: C0268579; Orphanet: 35; OMIM: 606054; Human Phenotype Ontology: HP:0003571
Assertion and evidence details
Last Updated: Mar 5, 2024