BAZ1B

bromodomain adjacent to zinc finger domain 1B

Summary

This gene encodes a member of the bromodomain protein family. The bromodomain is a structural motif characteristic of proteins involved in chromatin-dependent regulation of transcription. This gene is deleted in Williams-Beuren syndrome, a developmental disorder caused by deletion of multiple genes at 7q11.23. [provided by RefSeq, Jul 2008]

Known Variants131 total

rsidPosition (GRCh37)AllelesClassClinVar
rs22404667:72,856,269G/Aintron variant—
rs11789797:72,856,430T/Cintron variant—
rs9408699117:72,856,546C/T—uncertain significance
rs3752074597:72,856,550G/A—likely benign
rs24847524167:72,856,576T/C—uncertain significance
rs1443979807:72,856,634T/C—likely benign
rs11789787:72,856,676C/T—benign
rs11703257867:72,856,685C/T—likely benign
rs7824164757:72,856,797G/A—uncertain significance
rs7819681387:72,856,834G/A—uncertain significance
rs7823194827:72,856,836G/A—uncertain significance
rs5531469387:72,857,048C/G—likely benign
rs11789777:72,857,049A/Gsplice region variant—
rs1406655637:72,857,084G/A—likely benign
rs7822108777:72,857,112T/C—uncertain significance
rs15545654807:72,857,114C/T—likely benign
rs1501153177:72,857,130C/T—likely benign
rs1457828287:72,857,156C/T—likely benign
rs7821794367:72,857,167A/C—likely benign
rs7824236087:72,858,340C/T—uncertain significance
rs7823674207:72,858,349C/T—uncertain significance
rs13658105597:72,858,368G/A—likely benign
rs7817999647:72,858,394G/A—uncertain significance
rs1496437307:72,858,400C/G—uncertain significance
rs12666887257:72,858,418G/A—uncertain significance
rs1112485607:72,858,901T/Cintron variant—
rs1176248717:72,863,164T/Cregulatory region variant—
rs132315167:72,863,249T/Gregulatory region variant—
rs24847726497:72,863,873T/C—uncertain significance
rs3697869747:72,863,879G/A—uncertain significance
rs3726348287:72,863,887C/T—uncertain significance
rs9097630547:72,863,939C/T—uncertain significance
rs1841260787:72,864,025G/A—likely benign
rs7140527:72,864,869A/Gintron variant—
rs24847764317:72,865,186G/A—uncertain significance
rs24847764377:72,865,187A/T—uncertain significance
rs10235302277:72,865,315C/A—uncertain significance
rs1414122437:72,873,872T/C—likely benign
rs9402677147:72,873,900A/G—uncertain significance
rs7821362567:72,873,910T/A—uncertain significance
rs17883247817:72,873,936T/C—uncertain significance
rs7819873817:72,873,939C/T—uncertain significance
rs3693821717:72,873,971G/A—likely benign
rs119725957:72,876,445C/Tintron variant—
rs7826606067:72,877,257C/A—uncertain significance
rs24848079877:72,877,285T/C—uncertain significance
rs1481542537:72,877,419T/C—uncertain significance
rs7819760287:72,879,761C/T—likely benign
rs15545710447:72,879,768C/A—not provided
rs15545710487:72,879,814G/A—uncertain significance
rs7799306277:72,879,831C/G—uncertain significance
rs1396292097:72,880,650G/A—likely benign
rs7821726177:72,880,651T/C—uncertain significance
rs17885828147:72,880,674G/A—uncertain significance
rs7825650207:72,880,694G/T—uncertain significance
rs7822932517:72,880,695T/C—uncertain significance
rs15545711667:72,880,706A/C—uncertain significance
rs15545711687:72,880,730A/C—uncertain significance
rs715567157:72,881,807C/Tintron variant—
rs1499600167:72,883,870C/A—uncertain significance
rs7823868477:72,883,884G/C—uncertain significance
rs1450430367:72,883,898G/A—benign
rs17887195887:72,883,907G/C—uncertain significance
rs17887196947:72,883,909T/C—uncertain significance
rs7824506767:72,883,953T/C—likely benign
rs7827112517:72,883,963T/C—uncertain significance
rs602029027:72,890,476G/Cintron variant—
rs24848500647:72,891,320A/T—uncertain significance
rs3777534877:72,891,505C/G—likely benign
rs1820940447:72,891,568C/T—likely benign
rs2012597737:72,891,569G/A—uncertain significance
rs1471236617:72,891,589G/A—likely benign
rs1867323667:72,891,613A/T—uncertain significance
rs14415327087:72,891,631C/G—uncertain significance
rs24848512787:72,891,654T/C—uncertain significance
rs2014444897:72,891,657C/T—uncertain significance
rs15545729707:72,891,712C/T—likely benign
rs20747547:72,891,754C/T—benign
rs1389387907:72,891,799T/C—benign
rs7824149717:72,891,830A/G—uncertain significance
rs9525799377:72,891,847A/G—likely benign
rs1470303997:72,891,883G/T—likely benign
rs7818573567:72,891,943G/A—likely benign
rs3742558467:72,891,976C/T—likely benign
rs24848525497:72,892,058T/C—uncertain significance
rs2021456377:72,892,237C/T—likely benign
rs7821913207:72,892,426C/A—benign
rs24848538167:72,892,440T/A—uncertain significance
rs2005483907:72,892,517T/C—likely benign
rs7824325227:72,892,521G/A—uncertain significance
rs1847454057:72,892,601T/A—uncertain significance
rs15545731887:72,892,620C/T—uncertain significance
rs24848546437:72,892,635T/C—uncertain significance
rs9475239967:72,892,686T/C—likely benign
rs17890730937:72,892,689C/T—uncertain significance
rs3723477377:72,892,768G/A—likely benign
rs7821707687:72,892,788T/G—uncertain significance
rs24848553597:72,892,790G/A—uncertain significance
rs8885004787:72,892,792A/C—uncertain significance
rs9612052307:72,892,818T/C—uncertain significance

Showing 100 of 131 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.