NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) AND Coenzyme Q10 deficiency, primary, 1
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jan 4, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000001505.16
Allele description [Variation Report for NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn)]
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024