Y6* (p.Tyr6Ter) variant of PCDH15 (Protocadherin-15)
Y6* (p.Tyr6Ter) in PCDH15 (Protocadherin-15) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature.
Y6* (p.Tyr6Ter) variant details
- p.Tyr6Ter
- rs2549545673
- ClinGen CA2695199494
- ClinVar RCV003476678
- ClinVar RCV003708811
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)