G48* (p.Gly48Ter) variant of TH (Tyrosine 3-monooxygenase)
G48* (p.Gly48Ter) 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.
G48* (p.Gly48Ter) variant details
- p.Gly48Ter
- rs2495836407
- ClinGen CA379112642
- ClinVar RCV003474109
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)