G201R (p.Gly201Arg) variant of GCH1 (GTP cyclohydrolase 1)
G201R (p.Gly201Arg) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of GTP cyclohydrolase I deficiency; Dystonia 5. The record also includes published literature and structural context.
G201R (p.Gly201Arg) variant details
- p.Gly201Arg
- rs2140041673
- ClinGen CA389787308
- ClinVar RCV003812778
- Pathogenic
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- ClinVar: Pathogenic (GTP cyclohydrolase I deficiency; Dystonia 5)
- EBI: Pathogenic (in DRD)
- UniProt: Pathogenic (in DRD)
- Structural context available
- Cited in: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia. (PMID 20301681)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)