Y27* (p.Tyr27Ter) variant of USH1C (Harmonin)
Y27* (p.Tyr27Ter) in USH1C (Harmonin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes experimental measurements, published literature, and structural context.
Y27* (p.Tyr27Ter) variant details
- p.Tyr27Ter
- rs2497241282
- ClinGen CA379800535
- ClinVar RCV002306741
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- USH1C PDZ domain domainome 1.0: score -0.311
- Cited in: Usher Syndrome Type I. (PMID 20301442)
- Cited in: Clinical utility gene card for: Usher syndrome. (PMID 21697857)