NM_021830.5(TWNK):c.1172G>A (p.Arg391His) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000305281.5
Allele description [Variation Report for NM_021830.5(TWNK):c.1172G>A (p.Arg391His)]
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024