L24* (p.Leu24Ter) variant of BBS1 (BBSome complex member BBS1)
L24* (p.Leu24Ter) in BBS1 (BBSome complex member BBS1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
L24* (p.Leu24Ter) variant details
- p.Leu24Ter
- rs1855932058
- ClinGen CA381453606
- ClinVar RCV001263833
- Ensembl rs1855932058
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely 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)