R153* (p.Arg153Ter) variant of TH (Tyrosine 3-monooxygenase)
R153* (p.Arg153Ter) in TH (Tyrosine 3-monooxygenase) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data, published literature, and structural context.
R153* (p.Arg153Ter) variant details
- p.Arg153Ter
- rs771610752
- ClinGen CA5818693
- cosmic curated COSV10605
- ClinVar RCV000521520
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Tyrosine Hydroxylase Deficiency. (PMID 20301610)