NM_020247.5(COQ8A):c.850C>T (p.Gln284Ter) AND Cerebellar ataxia
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001541908.1
Allele description [Variation Report for NM_020247.5(COQ8A):c.850C>T (p.Gln284Ter)]
NM_020247.5(COQ8A):c.850C>T (p.Gln284Ter)
Condition(s)
- Name:
- Cerebellar ataxia
- Identifiers:
- MONDO: MONDO:0000437; MedGen: C0007758; Human Phenotype Ontology: HP:0001251
Assertion and evidence details
Last Updated: Dec 24, 2023