Y28* (p.Tyr28Ter) variant of PCDH15 (Protocadherin-15)
Y28* (p.Tyr28Ter) in PCDH15 (Protocadherin-15) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature.
Y28* (p.Tyr28Ter) variant details
- p.Tyr28Ter
- rs903145299
- ClinGen CA376541874
- ClinVar RCV000664985
- ClinVar RCV005392267
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Cited in: Genetic Hearing Loss Overview. (PMID 20301607)
- Cited in: Usher Syndrome Type I. (PMID 20301442)