NM_000018.4(ACADVL):c.848T>C (p.Val283Ala) AND Very long chain fatty acid accumulation
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Dec 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001807006.9
Allele description [Variation Report for NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)]
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
Condition(s)
- Name:
- Very long chain fatty acid accumulation
- Identifiers:
- MedGen: C3279397; Human Phenotype Ontology: HP:0008167
Assertion and evidence details
Last Updated: Apr 20, 2024