G63R (p.Gly63Arg) variant of BBS1 (BBSome complex member BBS1)
G63R (p.Gly63Arg) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
G63R (p.Gly63Arg) variant details
- p.Gly63Arg
- TOPMed rs1856007407
- Missense
- Structural context available