NM_021830.5(TWNK):c.492C>T (p.Leu164=) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
- 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:
- RCV000279300.6
Allele description [Variation Report for NM_021830.5(TWNK):c.492C>T (p.Leu164=)]
NM_021830.5(TWNK):c.492C>T (p.Leu164=)
Condition(s)
Assertion and evidence details
Last Updated: Apr 15, 2024