NM_020745.4(AARS2):c.2440G>A (p.Val814Met) AND Combined oxidative phosphorylation defect type 8
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000354995.5
Allele description [Variation Report for NM_020745.4(AARS2):c.2440G>A (p.Val814Met)]
NM_020745.4(AARS2):c.2440G>A (p.Val814Met)
Condition(s)
-
essv11271597 (2)
dbVar
-
essv11271514 (2)
dbVar
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Last Updated: Feb 28, 2024