NM_000532.5(PCCB):c.444C>T (p.Ala148=) AND Propionic acidemia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jul 29, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003841330.2
Allele description [Variation Report for NM_000532.5(PCCB):c.444C>T (p.Ala148=)]
NM_000532.5(PCCB):c.444C>T (p.Ala148=)
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
-
ENPP1 [Aptenodytes forsteri]
ENPP1 [Aptenodytes forsteri]Gene ID:103900755Gene
-
BST1 [Tympanuchus pallidicinctus]
BST1 [Tympanuchus pallidicinctus]Gene ID:128080300Gene
-
LOC6619679 [Drosophila sechellia]
LOC6619679 [Drosophila sechellia]Gene ID:6619679Gene
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Last Updated: Sep 29, 2024