K20* (p.Lys20Ter) variant of BBS4 (BBSome complex member BBS4)
K20* (p.Lys20Ter) in BBS4 (BBSome complex member BBS4) is a protein-truncating change. The record also includes structural context.
K20* (p.Lys20Ter) variant details
- p.Lys20Ter
- TOPMed rs2065054289
- Stop Gained
- Structural context available