Q55* (p.Gln55Ter) variant of USH2A (Usherin)
Q55* (p.Gln55Ter) in USH2A (Usherin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q55* (p.Gln55Ter) variant details
- p.Gln55Ter
- rs2102788946
- ClinGen CA344904733
- ClinVar RCV001542517
- Ensembl rs2102788946
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Usher Syndrome Type II. (PMID 20301515)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)