S7* (p.Ser7Ter) variant of USH2A (Usherin)
S7* (p.Ser7Ter) in USH2A (Usherin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
S7* (p.Ser7Ter) variant details
- p.Ser7Ter
- rs2527655909
- ClinGen CA344905190
- ClinVar RCV003579080
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available