NM_021830.5(TWNK):c.*301C>T AND Infantile onset spinocerebellar ataxia
- Germline classification:
- Uncertain significance (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:
- RCV000356361.5
Allele description [Variation Report for NM_021830.5(TWNK):c.*301C>T]
NM_021830.5(TWNK):c.*301C>T
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: Dec 24, 2023