R32* (p.Arg32Ter) variant of TH (Tyrosine 3-monooxygenase)
R32* (p.Arg32Ter) in TH (Tyrosine 3-monooxygenase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
R32* (p.Arg32Ter) variant details
- p.Arg32Ter
- rs1554924328
- ClinGen CA658821342
- ClinVar RCV000672473
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)