NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) AND Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 27, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001103036.4
Allele description [Variation Report for NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)]
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu)
Condition(s)
- Name:
- Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO)
- Synonyms:
- SENSORY ATAXIC NEUROPATHY WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE; Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome; Epilepsy, progressive myoclonic, type 5
- Identifiers:
- MONDO: MONDO:0011835; MedGen: C1843851; OMIM: 607459
Assertion and evidence details
Last Updated: Dec 24, 2023