NM_004606.5(TAF1):c.1632G>T (p.Gly544=) AND X-linked dystonia-parkinsonism
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Feb 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003147876.2
Allele description [Variation Report for NM_004606.5(TAF1):c.1632G>T (p.Gly544=)]
NM_004606.5(TAF1):c.1632G>T (p.Gly544=)
Condition(s)
- Name:
- X-linked dystonia-parkinsonism (DYT3)
- Synonyms:
- Dystonia 3, torsion, X-linked; Torsion dystonia-Parkinsonism, Filipino type; X-Linked Torsion Dystonia-Parkinsonism syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010747; MedGen: C1839130; Orphanet: 53351; OMIM: 314250
Assertion and evidence details
Last Updated: Oct 7, 2023