Y43* (p.Tyr43Ter) variant of BBS4 (BBSome complex member BBS4)
Y43* (p.Tyr43Ter) in BBS4 (BBSome complex member BBS4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y43* (p.Tyr43Ter) variant details
- p.Tyr43Ter
- rs2065331681
- ClinGen CA393075869
- ClinVar RCV001199436
- Ensembl rs2065331681
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)