Q228* (p.Gln228Ter) variant of TH (Tyrosine 3-monooxygenase)
Q228* (p.Gln228Ter) 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.
Q228* (p.Gln228Ter) variant details
- p.Gln228Ter
- rs2495815951
- ClinVar RCV004573740
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)