BBS4

Bardet-Biedl syndrome 4

Summary

This gene is a member of the Bardet-Biedl syndrome (BBS) gene family. Bardet-Biedl syndrome is an autosomal recessive disorder characterized by severe pigmentary retinopathy, obesity, polydactyly, renal malformation and cognitive disability. The proteins encoded by BBS gene family members are structurally diverse. The similar phenotypes exhibited by mutations in BBS gene family members are likely due to the protein's shared roles in cilia formation and function. Many BBS proteins localize to the basal bodies, ciliary axonemes, and pericentriolar regions of cells. BBS proteins may also be involved in intracellular trafficking via microtubule-related transport. The protein encoded by this gene has sequence similarity to O-linked N-acetylglucosamine (O-GlcNAc) transferases in plants and archaebacteria and in human forms a multi-protein "BBSome" complex with seven other BBS proteins. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]

Known Variants554 total

rsidPosition (GRCh37)AllelesClassClinVar
rs717813015:72,978,202G/T——
rs88605146515:72,978,525G/C—uncertain significance
rs1163792715:72,978,531A/C—benign
rs5636871615:72,978,552C/T—benign
rs14623863615:72,978,555T/A—uncertain significance
rs36754301115:72,978,563G/A—benign
rs77190020815:72,978,566A/G—uncertain significance
rs77310954215:72,978,569A/G—pathogenic
rs130287968315:72,978,570T/C—pathogenic
rs92339918015:72,978,573C/T—uncertain significance
rs95486326015:72,978,574T/A—likely benign
rs11399418315:72,978,576A/C—benign
rs131322244815:72,978,577G/A—likely benign
rs133663653715:72,978,578G/T—pathogenic
rs54373523915:72,978,580G/A—likely benign
rs130709468515:72,978,582G/C—uncertain significance
rs123424197515:72,978,584G/A—uncertain significance
rs11399418515:72,978,585T/C—benign
rs11399418715:72,978,586C/A—likely benign
rs206483111115:72,978,587G/C—uncertain significance
rs11399418615:72,978,588C/T—conflicting classifications of pathogenicity
rs76989437515:72,978,591C/T—uncertain significance
rs75952021115:72,978,593G/T—likely pathogenic
rs254286173115:72,978,594T/G—likely pathogenic
rs142748919415:72,978,598C/T—uncertain significance
rs37386107115:72,978,599G/A—likely benign
rs20005576015:72,978,600C/T—conflicting classifications of pathogenicity
rs76426574015:72,978,601C/T—benign
rs254286184015:72,978,603A/T—likely benign
rs37730129815:72,978,608C/G—likely benign
rs206483220215:72,978,609T/C—likely benign
rs36878956015:72,978,610C/G—likely benign
rs14093449315:72,987,500C/T—likely benign
rs206000922715:72,987,502A/G—likely benign
rs104014447815:72,987,524C/T—pathogenic
rs15116419115:72,987,530C/T—conflicting classifications of pathogenicity
rs99098411515:72,987,532T/G—likely benign
rs11399418115:72,987,535A/G—likely benign
rs254289208215:72,987,541T/A—likely benign
rs254289212415:72,987,548C/T—pathogenic
rs254289214915:72,987,550A/G—likely benign
rs91674949215:72,987,554C/T—uncertain significance
rs26760430915:72,987,556C/T—conflicting classifications of pathogenicity
rs72750382015:72,987,557C/T—uncertain significance
rs77595587215:72,987,558G/A—uncertain significance
rs254289223115:72,987,559G/A—likely benign
rs254289224115:72,987,560C/T—pathogenic
rs146543716415:72,987,570G/T—pathogenic
rs76666506415:72,987,571T/C—pathogenic
rs215099737315:72,987,576A/G—likely benign
rs206505523315:72,987,579C/T—likely benign
rs75432862215:72,987,585C/T—likely benign
rs254289240115:72,987,586A/G—likely benign
rs477752715:72,987,588G/C—likely benign
rs3466192415:72,994,564A/Gintron variant—
rs215101611015:73,002,024C/T—likely benign
rs803360415:73,002,035G/A—benign
rs254293175415:73,002,037C/T—likely benign
rs215101612815:73,002,041C/T—uncertain significance
rs206533047215:73,002,042T/A—likely benign
rs74804847915:73,002,044C/T—uncertain significance
rs77212233615:73,002,048G/A—likely benign
rs134370215215:73,002,049T/G—uncertain significance
rs11399418215:73,002,055A/G—benign
rs77132584815:73,002,058T/C—likely benign
rs254293185315:73,002,059T/A—likely pathogenic
rs75993704415:73,002,063G/A—likely benign
rs254293188615:73,002,067C/T—likely pathogenic
rs37004939915:73,002,074G/A—likely pathogenic
rs254293192215:73,002,080T/C—uncertain significance
rs254293197815:73,002,088C/T—uncertain significance
rs206533168115:73,002,093T/G—pathogenic
rs74995134615:73,002,094A/G—uncertain significance
rs76034561215:73,002,097C/T—uncertain significance
rs105016496215:73,002,098G/A—uncertain significance
rs7529583915:73,002,101A/G—conflicting classifications of pathogenicity
rs130673463015:73,002,110A/C—uncertain significance
rs75470970815:73,002,117C/T—conflicting classifications of pathogenicity
rs77868353515:73,002,124A/G—uncertain significance
rs74953063215:73,002,129T/C—likely benign
rs206533291215:73,002,130T/G—likely benign
rs206533301415:73,002,132C/T—likely benign
rs37650088415:73,002,134A/G—likely benign
rs215101947815:73,004,565C/T—likely benign
rs37316657315:73,004,566A/G—likely benign
rs75342119315:73,004,570T/G—likely benign
rs93758270315:73,004,572C/T—likely benign
rs254294016615:73,004,573T/G—likely benign
rs75924993615:73,004,576C/T—likely benign
rs254294024015:73,004,579T/C—likely benign
rs254294025115:73,004,581T/C—likely benign
rs156741263915:73,004,582C/G—pathogenic
rs11399419215:73,004,583A/Gsplice region variantpathogenic
rs254294026515:73,004,584G/T—pathogenic
rs88603980215:73,004,600C/Tstop gainedpathogenic
rs254294035515:73,004,602G/A—likely benign
rs91624590315:73,004,607A/G—uncertain significance
rs11443436115:73,004,608A/G—benign
rs125182733315:73,004,609G/A—likely benign
rs133846902915:73,004,615C/T—pathogenic

Showing 100 of 554 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.