NM_001195087.2(GGACT):c.*1873T>C AND Propionic acidemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001115146.4
Allele description [Variation Report for NM_001195087.2(GGACT):c.*1873T>C]
NM_001195087.2(GGACT):c.*1873T>C
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: Apr 9, 2023