NM_000113.3(TOR1A):c.936_937del (p.Arg312fs) AND Dystonic disorder
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002975362.2
Allele description [Variation Report for NM_000113.3(TOR1A):c.936_937del (p.Arg312fs)]
NM_000113.3(TOR1A):c.936_937del (p.Arg312fs)
Condition(s)
- Name:
- Dystonic disorder
- Synonyms:
- Dystonia
- Identifiers:
- MONDO: MONDO:0003441; MedGen: C0013421; Human Phenotype Ontology: HP:0001332
-
Stambp STAM binding protein [Mus musculus]
Stambp STAM binding protein [Mus musculus]Gene ID:70527Gene
-
Gene Links for GEO Profiles (Select 38821924) (1)
Gene
-
Homologene neighbors for GEO Profiles (Select 24007473) (0)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024