BBS7

Bardet-Biedl syndrome 7

Summary

This gene encodes one of eight proteins that form the BBSome complex containing BBS1, BBS2, BBS4, BBS5, BBS7, BBS8, BBS9 and BBIP10. The BBSome complex is believed to recruit Rab8(GTP) to the primary cilium and promote ciliogenesis. The BBSome complex assembly is mediated by a complex composed of three chaperonin-like BBS proteins (BBS6, BBS10, and BBS12) and CCT/TRiC family chaperonins. Mutations in this gene are implicated in Bardet-Biedl syndrome, a genetic disorder whose symptoms include obesity, retinal degeneration, polydactyly and nephropathy; however, mutations in this gene and the BBS8 gene are thought to play a minor role and mutations in chaperonin-like BBS genes are found to be a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. Two transcript variants encoding distinct isoforms have been identified for this gene.[provided by RefSeq, Oct 2014]

Known Variants563 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5461221584:122,745,489G/A—uncertain significance
rs5444924134:122,745,654T/A—uncertain significance
rs1816878084:122,745,691C/T—uncertain significance
rs15079964:122,745,729T/C—benign
rs32177564:122,745,813C/T—benign
rs9181274024:122,745,854T/C—uncertain significance
rs5425333054:122,745,876A/G—uncertain significance
rs8860590494:122,746,019A/G—uncertain significance
rs32177554:122,746,083A/C—benign
rs8798271694:122,746,187T/C—uncertain significance
rs10258860414:122,746,291G/A—uncertain significance
rs8860590504:122,746,306C/G—uncertain significance
rs32177534:122,746,325A/G—benign
rs8860590514:122,746,410C/T—uncertain significance
rs5770716724:122,746,502G/A—uncertain significance
rs37628404:122,746,596A/T—benign
rs5709958014:122,746,662C/T—uncertain significance
rs8860590524:122,746,711T/G—uncertain significance
rs1902522634:122,746,742A/G—uncertain significance
rs801716194:122,746,765A/C—benign
rs2004706334:122,747,017A/G—uncertain significance
rs21490455754:122,747,021T/C—likely benign
rs3714496014:122,747,026C/T—uncertain significance
rs1997822174:122,747,027G/A—likely benign
rs12574623994:122,747,030G/A—likely benign
rs3758257054:122,747,055T/C—uncertain significance
rs12297209634:122,747,057A/C—uncertain significance
rs12763575264:122,747,058C/A—uncertain significance
rs24767945264:122,747,080G/T—uncertain significance
rs7591525564:122,747,081G/T—likely benign
rs17248837004:122,747,089T/C—uncertain significance
rs21490456724:122,747,090A/G—likely benign
rs17248842384:122,747,096T/C—likely benign
rs3706560214:122,747,100T/C—uncertain significance
rs21490457014:122,747,101T/A—uncertain significance
rs10277794614:122,747,106C/T—uncertain significance
rs7538841444:122,747,117A/G—conflicting classifications of pathogenicity
rs5344089104:122,747,121T/A—uncertain significance
rs11632842054:122,747,128T/C—uncertain significance
rs21490457564:122,747,129G/A—likely benign
rs14365565704:122,747,146T/A—uncertain significance
rs13231070074:122,747,147G/A—likely benign
rs24767950104:122,747,148C/A—uncertain significance
rs14107911194:122,747,154A/G—likely benign
rs12268210914:122,747,165T/A—likely benign
rs10484334:122,748,996A/C—benign
rs13870929874:122,749,292T/C—likely benign
rs10130020374:122,749,303T/C—uncertain significance
rs7602480414:122,749,305G/A—likely benign
rs24768013024:122,749,308T/A—uncertain significance
rs13423367104:122,749,319G/A—uncertain significance
rs24768013894:122,749,320T/G—likely benign
rs17249954264:122,749,323A/G—likely benign
rs3750842394:122,749,324G/A—uncertain significance
rs7537958404:122,749,326T/C—likely benign
rs7573085234:122,749,336T/C—uncertain significance
rs7652409124:122,749,337A/G—uncertain significance
rs1137860074:122,749,340C/G—uncertain significance
rs10444865794:122,749,343C/T—uncertain significance
rs17249976374:122,749,345T/C—uncertain significance
rs7501470154:122,749,347T/C—likely benign
rs24768015434:122,749,349G/A—likely benign
rs24768015534:122,749,350G/A—likely benign
rs1436320904:122,749,355C/G—uncertain significance
rs24768016124:122,749,362T/C—likely benign
rs15785218384:122,749,365T/C—likely benign
rs24768016424:122,749,367G/A—likely benign
rs2010967754:122,749,373A/C—uncertain significance
rs17250003114:122,749,375T/C—uncertain significance
rs7486345964:122,749,392A/T—uncertain significance
rs7702392094:122,749,398C/T—likely benign
rs7737711444:122,749,399G/A—uncertain significance
rs10320764504:122,749,407C/T—likely benign
rs12339606284:122,749,411T/A—uncertain significance
rs24768019524:122,749,418G/A—pathogenic
rs21490481734:122,749,425C/T—pathogenic
rs10575190274:122,749,426T/G—pathogenic
rs27067934:122,749,436G/T—benign
rs3742809924:122,749,440A/C—likely benign
rs7793825774:122,749,538C/T—likely benign
rs3688183264:122,749,539G/A—likely benign
rs24768024354:122,749,540A/G—likely benign
rs15079944:122,749,541C/G—likely benign
rs7613503914:122,749,542G/A—conflicting classifications of pathogenicity
rs12698512334:122,749,548T/C—likely benign
rs15606383154:122,749,549G/A—likely benign
rs15539305144:122,749,551A/G—pathogenic
rs24768025034:122,749,561A/T—pathogenic
rs24768025364:122,749,566A/G—likely benign
rs7694050894:122,749,578C/T—likely benign
rs7730197854:122,749,589C/T—uncertain significance
rs17250111474:122,749,596C/G—uncertain significance
rs14127412104:122,749,598A/G—likely benign
rs17250118004:122,749,601G/A—pathogenic
rs17250126624:122,749,617G/A—likely benign
rs24768028364:122,749,622T/C—uncertain significance
rs12951220354:122,749,625G/A—likely benign
rs10256536954:122,749,629T/C—likely benign
rs7676661424:122,749,635G/A—likely benign
rs7529709554:122,749,641G/C—likely benign

Showing 100 of 563 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.