NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) AND Infantile onset spinocerebellar ataxia
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001105993.4
Allele description [Variation Report for NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)]
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr)
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
-
Lactiplantibacillus plantarum strain HBUAS59279 16S ribosomal RNA gene, partial ...
Lactiplantibacillus plantarum strain HBUAS59279 16S ribosomal RNA gene, partial sequencegi|2214416895|gb|ON115042.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024