NM_000360.4(TH):c.685A>T (p.Ile229Phe) AND Dystonia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 31, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000692069.3
Allele description
NM_000360.4(TH):c.685A>T (p.Ile229Phe)
Condition(s)
- Name:
- Dystonia
- Synonyms:
- Dystonic disease; Dystonic movements
- Identifiers:
- MONDO: MONDO:0003441; MedGen: C0393593; OMIM: PS128100; Human Phenotype Ontology: HP:0001332
-
nuclear corepressor KAP-1 [Homo sapiens]
nuclear corepressor KAP-1 [Homo sapiens]gi|1699027|gb|AAB37341.1|Protein
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See more...Assertion and evidence details
Last Updated: Apr 2, 2021