R17* (p.Arg17Ter) variant of BBS2 (BBSome complex member BBS2)
R17* (p.Arg17Ter) in BBS2 (BBSome complex member BBS2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes structural context.
R17* (p.Arg17Ter) variant details
- p.Arg17Ter
- TOPMed rs1398091050
- gnomAD rs1398091050
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available