NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn) AND Coenzyme Q10 deficiency, primary, 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 23, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000995527.3
Allele description [Variation Report for NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn)]
NM_001358921.2(COQ2):c.220T>A (p.Tyr74Asn)
Condition(s)
Assertion and evidence details
Last Updated: Mar 5, 2024