Gene entry
BBS7
Bardet-Biedl syndrome 7
- Chromosome
- 4
- Cytoband
- 4q27
- Variants (rsID)
- 12
BBS7 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 4 (region 4q27). Its official name is “Bardet-Biedl syndrome 7”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs3217756Benignsingle nucleotide variantBardet-Biedl syndrome 7
- rs111442398Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 7
- rs202102193Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 7
- rs119466002Pathogenicsingle nucleotide variantBardet-Biedl syndrome 1/7, digenic|Bardet-Biedl syndrome
- rs760165634PathogenicMicrosatelliteBardet-Biedl syndrome|Retinal dystrophy|Bardet-Biedl syndrome 7
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.