D47G (p.Asp47Gly) variant of BBS4 (BBSome complex member BBS4)
D47G (p.Asp47Gly) in BBS4 (BBSome complex member BBS4) is a missense change. The record also includes structural context.
D47G (p.Asp47Gly) variant details
- p.Asp47Gly
- Ensembl rs2065332116
- Missense
- Structural context available