NM_000161.3(GCH1):c.-106G>A AND Dystonia 5
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 13, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000305436.5
Allele description [Variation Report for NM_000161.3(GCH1):c.-106G>A]
NM_000161.3(GCH1):c.-106G>A
Condition(s)
- Name:
- Dystonia 5 (DRD)
- Synonyms:
- Dystonia 5, Dopa-responsive type; Dystonia, progressive, with diurnal variation; Dystonia-Parkinsonism with diurnal fluctuation; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007495; MedGen: C1851920; Orphanet: 98808; OMIM: 128230
Assertion and evidence details
Last Updated: Oct 14, 2023