NM_024537.4(CARS2):c.1535G>A (p.Arg512Gln) AND Combined oxidative phosphorylation defect type 27
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000652713.9
Allele description [Variation Report for NM_024537.4(CARS2):c.1535G>A (p.Arg512Gln)]
NM_024537.4(CARS2):c.1535G>A (p.Arg512Gln)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024