NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 5
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Mar 7, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000678503.2
Allele description [Variation Report for NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter)]
NM_004618.5(TOP3A):c.403C>T (p.Arg135Ter)
Condition(s)
Assertion and evidence details
Last Updated: Mar 16, 2024