D45Y (p.Asp45Tyr) variant of BBS1 (BBSome complex member BBS1)
D45Y (p.Asp45Tyr) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
D45Y (p.Asp45Tyr) variant details
- p.Asp45Tyr
- ESP rs367682811
- TOPMed rs367682811
- Missense
- Structural context available