W196* (p.Trp196Ter) variant of TH (Tyrosine 3-monooxygenase)
W196* (p.Trp196Ter) in TH (Tyrosine 3-monooxygenase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
W196* (p.Trp196Ter) variant details
- p.Trp196Ter
- rs2495817973
- ClinGen CA379128675
- ClinVar RCV003623967
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)