C67* (p.Cys67Ter) variant of USH2A (Usherin)
C67* (p.Cys67Ter) in USH2A (Usherin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
C67* (p.Cys67Ter) variant details
- p.Cys67Ter
- rs2527654883
- ClinGen CA344904576
- ClinVar RCV003696128
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available