F217C (p.Phe217Cys) variant of BBS2 (BBSome complex member BBS2)
F217C (p.Phe217Cys) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Bardet-Biedl syndrome 2. The record also includes published literature and structural context.
F217C (p.Phe217Cys) variant details
- p.Phe217Cys
- rs2543721403
- ClinGen CA395983134
- ClinVar RCV004017214
- Likely pathogenic
- Bardet-Biedl syndrome 2
- Missense
- ClinVar: Likely pathogenic (Bardet-Biedl syndrome 2)
- 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)