Q58* (p.Gln58Ter) variant of BBS4 (BBSome complex member BBS4)
Q58* (p.Gln58Ter) 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.
Q58* (p.Gln58Ter) variant details
- p.Gln58Ter
- rs886039802
- ClinGen CA10588975
- ClinVar RCV000256420
- ClinVar RCV003463722
- Pathogenic
- Stop Gained
- 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)