Q340* (p.Gln340Ter) variant of TH (Tyrosine 3-monooxygenase)
Q340* (p.Gln340Ter) in TH (Tyrosine 3-monooxygenase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q340* (p.Gln340Ter) variant details
- p.Gln340Ter
- rs2495803078
- ClinGen CA379126202
- ClinVar RCV003624328
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)