Gene entry
BBS5
Bardet-Biedl syndrome 5
- Chromosome
- 2
- Cytoband
- 2q31.1
- Variants (rsID)
- 7
BBS5 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2q31.1). Its official name is “Bardet-Biedl syndrome 5”. The reference table lists 7 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs137853921Conflicting interpretationssingle nucleotide variantCone dystrophy|Bardet-Biedl syndrome
- rs143191074Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.