Q302* (p.Gln302Ter) variant of TH (Tyrosine 3-monooxygenase)
Q302* (p.Gln302Ter) 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.
Q302* (p.Gln302Ter) variant details
- p.Gln302Ter
- rs2495805308
- ClinGen CA379126612
- ClinVar RCV002306620
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)