G90R (p.Gly90Arg) variant of GCH1 (GTP cyclohydrolase 1)
G90R (p.Gly90Arg) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of GTP cyclohydrolase I deficiency; Dystonia 5; not provided. The record also includes published literature and structural context.
G90R (p.Gly90Arg) variant details
- p.Gly90Arg
- rs2504539350
- ClinGen CA389793728
- ClinVar RCV003803287
- ClinVar RCV005620489
- Conflicting interpretations
- GTP cyclohydrolase I deficiency; Dystonia 5; not provided
- Missense
- ClinVar: Conflicting classifications of pathogenicity (GTP cyclohydrolase I deficiency; Dystonia 5; not provided)
- EBI: Likely pathogenic (in DRD)
- UniProt: Likely 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)