NM_000113.3(TOR1A):c.*948C>T AND Early-onset generalized limb-onset dystonia
- Germline classification:
- Benign (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:
- RCV001168147.4
Allele description [Variation Report for NM_000113.3(TOR1A):c.*948C>T]
NM_000113.3(TOR1A):c.*948C>T
Condition(s)
- Name:
- Early-onset generalized limb-onset dystonia
- Synonyms:
- Dystonia musculorum deformans 1; Oppenheim's dystonia; Dystonia 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007492; MedGen: C1851945; Orphanet: 256; OMIM: 128100
Assertion and evidence details
Last Updated: Dec 24, 2023