Y118* (p.Tyr118Ter) variant of OTOF (Otoferlin)
Y118* (p.Tyr118Ter) in OTOF (Otoferlin) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
Y118* (p.Tyr118Ter) variant details
- p.Tyr118Ter
- rs2465353501
- ClinGen CA346139541
- ClinVar RCV003548618
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available