Q377* (p.Gln377Ter) variant of TH (Tyrosine 3-monooxygenase)
Q377* (p.Gln377Ter) 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.
Q377* (p.Gln377Ter) variant details
- p.Gln377Ter
- rs2495800851
- ClinGen CA379125945
- ClinVar RCV003474110
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)