NM_021830.5(TWNK):c.1101C>T (p.Ile367=) 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:
- RCV000316283.5
Allele description [Variation Report for NM_021830.5(TWNK):c.1101C>T (p.Ile367=)]
NM_021830.5(TWNK):c.1101C>T (p.Ile367=)
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
-
Peroxidase superfamily protein [Arabidopsis thaliana]
Peroxidase superfamily protein [Arabidopsis thaliana]gi|15227200|ref|NP_179828.1|Protein
-
hypothetical protein MezzoGao_50 [Klebsiella phage MezzoGao]
hypothetical protein MezzoGao_50 [Klebsiella phage MezzoGao]gi|1236577258|gb|ASV44996.1|Protein
-
Chain C, 2G12 IgG dimer light chain
Chain C, 2G12 IgG dimer light chaingi|588293061|pdb|4NHG|CProtein
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024