Y7* (p.Tyr7Ter) variant of CYP27B1 (O15528)
Y7* (p.Tyr7Ter) in CYP27B1 (O15528) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data and structural context.
Y7* (p.Tyr7Ter) variant details
- p.Tyr7Ter
- rs778438734
- ClinGen CA6658567
- ClinVar RCV003663468
- ExAC rs778438734
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available