Gene entry
BBS12
Bardet-Biedl syndrome 12
- Chromosome
- 4
- Cytoband
- 4q27
- Variants (rsID)
- 16
BBS12 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 12”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
5 reference-table entries with clinical significance.
- rs17006092Benignsingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 1|Bardet-Biedl syndrome 12
- rs77731085Benignsingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 12
- rs78457123Benignsingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 12
- rs138036823Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome 12|Bardet-Biedl syndrome 1|Bardet-Biedl syndrome
- rs145392789Conflicting interpretationssingle nucleotide variantBardet-Biedl syndrome|Bardet-Biedl syndrome 12
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.
