Q11* (p.Gln11Ter) variant of BBS4 (BBSome complex member BBS4)
Q11* (p.Gln11Ter) 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 variant effect predictions, published literature, and structural context.
Q11* (p.Gln11Ter) variant details
- p.Gln11Ter
- rs1040144478
- ClinGen CA393075497
- ClinVar RCV003465091
- ClinVar RCV003633724
- Pathogenic
- Stop Gained
- MutPred 0.15
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Bardet-Biedl Syndrome Overview. (PMID 20301537)
- Cited in: Pediatric Obesity-Assessment, Treatment, and Prevention: An Endocrine Society Clinical Practice Guideline. (PMID 28359099)