NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr) AND Autosomal recessive cerebellar ataxia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jun 14, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000364964.5
Allele description [Variation Report for NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)]
NM_020247.5(COQ8A):c.1711G>A (p.Ala571Thr)
Condition(s)
Assertion and evidence details
Last Updated: May 7, 2024