L32* (p.Leu32Ter) variant of BBS4 (BBSome complex member BBS4)
L32* (p.Leu32Ter) in BBS4 (BBSome complex member BBS4) 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.
L32* (p.Leu32Ter) variant details
- p.Leu32Ter
- rs2542931853
- ClinGen CA393075784
- ClinVar RCV003465085
- 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)