NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln) AND Combined oxidative phosphorylation defect type 8
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000260230.5
Allele description [Variation Report for NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln)]
NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln)
Condition(s)
Assertion and evidence details
Last Updated: Feb 28, 2024