Q19* (p.Gln19Ter) variant of BBS4 (BBSome complex member BBS4)

Name: BBS4 Q19* (p.Gln19Ter) variant | CATVariant
Creator: Center for Precision Medicine and Data Sciences
Published: 2026-08-22
License: https://catvariant.com/terms-of-use

Q19* (p.Gln19Ter) in BBS4 (BBSome complex member BBS4) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.

Q19* (p.Gln19Ter) variant details

p.Gln19Ter
rs2542892124
ClinGen CA393075548
ClinVar RCV003465078
ClinVar RCV003523201
Pathogenic
Stop Gained
EBI: Pathogenic
UniProt: 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)