Q92* (p.Gln92Ter) variant of PCDH15 (Protocadherin-15)
Q92* (p.Gln92Ter) in PCDH15 (Protocadherin-15) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data and published literature.
Q92* (p.Gln92Ter) variant details
- p.Gln92Ter
- rs143842048
- ClinGen CA376540495
- ClinVar RCV000670777
- ClinVar RCV001073252
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)