NM_020247.5(COQ8A):c.1236C>T (p.Ala412=) AND Autosomal recessive ataxia due to ubiquinone deficiency
- 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:
- RCV001096083.4
Allele description [Variation Report for NM_020247.5(COQ8A):c.1236C>T (p.Ala412=)]
NM_020247.5(COQ8A):c.1236C>T (p.Ala412=)
Condition(s)
Assertion and evidence details
Last Updated: Feb 20, 2024