T94A (p.Thr94Ala) variant of GCH1 (GTP cyclohydrolase 1)
T94A (p.Thr94Ala) in GCH1 (GTP cyclohydrolase 1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of GTP cyclohydrolase I deficiency; Dystonia 5. The record also includes published literature and structural context.
T94A (p.Thr94Ala) variant details
- p.Thr94Ala
- rs2504539278
- ClinGen CA389793688
- ClinVar RCV003813013
- Uncertain significance
- GTP cyclohydrolase I deficiency; Dystonia 5
- Missense
- ClinVar: Uncertain significance (GTP cyclohydrolase I deficiency; Dystonia 5)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)