NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Oct 9, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000779014.5
Allele description [Variation Report for NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)]
NM_021830.5(TWNK):c.1070G>C (p.Arg357Pro)
Condition(s)
Assertion and evidence details
Last Updated: Mar 10, 2024