E115* (p.Glu115Ter) variant of BBS2 (BBSome complex member BBS2)
E115* (p.Glu115Ter) in BBS2 (BBSome complex member BBS2) 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.
E115* (p.Glu115Ter) variant details
- p.Glu115Ter
- rs1964674209
- ClinGen CA395985290
- ClinVar RCV001264336
- Ensembl rs1964674209
- 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)