E37* (p.Glu37Ter) variant of GCH1 (GTP cyclohydrolase 1)
E37* (p.Glu37Ter) in GCH1 (GTP cyclohydrolase 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E37* (p.Glu37Ter) variant details
- p.Glu37Ter
- rs2140127551
- ClinGen CA389794330
- ClinVar RCV001866517
- Ensembl rs2140127551
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- 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)