Y295* (p.Tyr295Ter) variant of TH (Tyrosine 3-monooxygenase)
Y295* (p.Tyr295Ter) in TH (Tyrosine 3-monooxygenase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
Y295* (p.Tyr295Ter) variant details
- p.Tyr295Ter
- rs200730608
- ClinGen CA379126704
- ClinVar RCV002309950
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)