NM_021830.5(TWNK):c.492C>T (p.Leu164=) AND Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000395922.6
Allele description [Variation Report for NM_021830.5(TWNK):c.492C>T (p.Leu164=)]
NM_021830.5(TWNK):c.492C>T (p.Leu164=)
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: Jun 17, 2024