NM_000018.4(ACADVL):c.1349G>A (p.Arg450His) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001003625.1
Allele description [Variation Report for NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)]
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
Condition(s)
- Name:
- Abnormal circulating enzyme concentration
- Identifiers:
- MedGen: C4023591; Human Phenotype Ontology: HP:0011021
- Name:
- Rhabdomyolysis
- Synonyms:
- Rhabdomyolysis (disease)
- Identifiers:
- MedGen: C0035410; Human Phenotype Ontology: HP:0003201
Assertion and evidence details
Last Updated: Apr 6, 2024