NM_022072.5(NSUN3):c.454T>A (p.Cys152Ser) AND Combined oxidative phosphorylation deficiency 48
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 17, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001256013.1
Allele description [Variation Report for NM_022072.5(NSUN3):c.454T>A (p.Cys152Ser)]
NM_022072.5(NSUN3):c.454T>A (p.Cys152Ser)
Condition(s)
Assertion and evidence details
Last Updated: Apr 23, 2022