NM_021830.5(TWNK):c.1735-14C>A 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:
- RCV000314586.5
Allele description [Variation Report for NM_021830.5(TWNK):c.1735-14C>A]
NM_021830.5(TWNK):c.1735-14C>A
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
-
CO16, partial [Homo sapiens]
CO16, partial [Homo sapiens]gi|2407911|emb|CAA04692.1|Protein
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Last Updated: Mar 10, 2024