Q243* (p.Gln243Ter) variant of TH (Tyrosine 3-monooxygenase)
Q243* (p.Gln243Ter) 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.
Q243* (p.Gln243Ter) variant details
- p.Gln243Ter
- rs2495815488
- ClinGen CA379127972
- ClinVar RCV002309434
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)