NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 1, 2003
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000004886.6
Allele description [Variation Report for NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)]
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln)
Condition(s)
- Name:
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, digenic
- Identifiers:
- MedGen: C1868097
Assertion and evidence details
Last Updated: Sep 29, 2024