NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) AND Infantile onset spinocerebellar ataxia
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Dec 1, 2007
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000004889.13
Allele description [Variation Report for NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)]
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile)
Condition(s)
- Name:
- Infantile onset spinocerebellar ataxia (MTDPS7)
- Synonyms:
- Ophthalmoplegia, hypotonia, ataxia, hypacusis, and athetosis; Spinocerebellar ataxia 8 (formerly); SCA8 (formerly); See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010060; MedGen: C1849096; Orphanet: 1186; OMIM: 271245
Assertion and evidence details
Last Updated: Oct 13, 2024