S10* (p.Ser10Ter) variant of MYBPC3 (Myosin-binding protein C, cardiac-type)
S10* (p.Ser10Ter) 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.
S10* (p.Ser10Ter) variant details
- p.Ser10Ter
- rs2495786759
- ClinGen CA380342071
- ClinVar RCV002435602
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available