NM_015713.5(RRM2B):c.162A>G (p.Lys54=) AND Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001160043.4
Allele description [Variation Report for NM_015713.5(RRM2B):c.162A>G (p.Lys54=)]
NM_015713.5(RRM2B):c.162A>G (p.Lys54=)
Condition(s)
- Name:
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5
- Synonyms:
- RRM2B-Related Chronic Progressive External Ophthalmoplegia with Multiple mtDNA Deletions; Chronic Progressive External Ophthalmoplegia with Multiple mtDNA Deletions; PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 5
- Identifiers:
- MONDO: MONDO:0013117; MedGen: C2751319; OMIM: 613077
Assertion and evidence details
Last Updated: Apr 9, 2023