NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu) AND Methylmalonic acidemia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 1, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001280421.1
Allele description [Variation Report for NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)]
NM_001243279.3(ACSF3):c.1643C>T (p.Ser548Leu)
Condition(s)
- Name:
- Methylmalonic acidemia (MMA)
- Synonyms:
- Isolated Methylmalonic Acidemia
- Identifiers:
- MONDO: MONDO:0002012; MeSH: C537358; MedGen: C0268583; Human Phenotype Ontology: HP:0002912
Assertion and evidence details
Last Updated: Sep 29, 2024