NM_000360.4(TH):c.891G>A (p.Arg297=) AND Autosomal recessive DOPA responsive dystonia
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 27, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001890796.5
Allele description [Variation Report for NM_000360.4(TH):c.891G>A (p.Arg297=)]
NM_000360.4(TH):c.891G>A (p.Arg297=)
Condition(s)
- Name:
- Autosomal recessive DOPA responsive dystonia
- Synonyms:
- Segawa syndrome, autosomal recessive; DYT-TH; TH-deficient dopa-responsive dystonia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011551; MedGen: C2673535; Orphanet: 101150; OMIM: 605407
Assertion and evidence details
Last Updated: Mar 5, 2024