Y55* (p.Tyr55Ter) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
Y55* (p.Tyr55Ter) in MYBPC3 (Myosin-binding protein C, cardiac-type) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y55* (p.Tyr55Ter) variant details
- p.Tyr55Ter
- rs780012957
- ClinGen CA380341793
- ClinVar RCV003747867
- ClinGen CA380341794
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available