D90N (p.Asp90Asn) variant of BBS2 (BBSome complex member BBS2)
D90N (p.Asp90Asn) in BBS2 (BBSome complex member BBS2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Bardet-Biedl syndrome. The record also includes published literature and structural context.
D90N (p.Asp90Asn) variant details
- p.Asp90Asn
- rs2543741427
- ClinGen CA395985683
- ClinVar RCV002751390
- Uncertain significance
- Bardet-Biedl syndrome
- Missense
- ClinVar: Uncertain significance (Bardet-Biedl syndrome)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)