C12R (p.Cys12Arg) variant of BBS1 (BBSome complex member BBS1)
C12R (p.Cys12Arg) in BBS1 (BBSome complex member BBS1) is a missense change. The record also includes structural context.
C12R (p.Cys12Arg) variant details
- p.Cys12Arg
- Ensembl rs2134764307
- Missense
- Structural context available