BLTP1

bridge-like lipid transfer protein family member 1

Summary

This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]

Known Variants441 total

rsidPosition (GRCh37)AllelesClassClinVar
rs623239274:123,091,678C/T—benign
rs1474126764:123,091,817G/A—likely benign
rs729239864:123,094,017C/T—benign
rs2005362844:123,094,236A/C—uncertain significance
rs17356359314:123,094,241C/T—uncertain significance
rs24791394104:123,094,258T/C—likely benign
rs1406289764:123,094,315T/G—likely benign
rs738444814:123,095,529A/G—benign
rs100210374:123,095,703C/T—benign
rs1996408934:123,095,797A/G—conflicting classifications of pathogenicity
rs738444824:123,095,889G/C—benign
rs286029444:123,096,838C/T—benign
rs7562076824:123,097,041A/C—uncertain significance
rs5437042244:123,097,050C/A—uncertain significance
rs12026997974:123,107,240T/C—likely benign
rs17404505524:123,107,242A/G—uncertain significance
rs3722437964:123,107,260A/G—uncertain significance
rs7790543764:123,107,271C/T—uncertain significance
rs7489795064:123,107,304A/G—uncertain significance
rs1853012814:123,107,337C/T—uncertain significance
rs3720537664:123,107,344T/C—uncertain significance
rs1881828904:123,108,615C/G—conflicting classifications of pathogenicity
rs769123494:123,108,631A/T—uncertain significance
rs7664557574:123,108,653G/A—uncertain significance
rs24799250664:123,108,665A/C—uncertain significance
rs76700814:123,108,762G/A—benign
rs100098884:123,109,019A/G—benign
rs12838982264:123,109,054G/A—uncertain significance
rs15539842524:123,109,070T/G—uncertain significance
rs1386002164:123,109,082G/T—likely benign
rs15539843214:123,109,105A/G—uncertain significance
rs2011833494:123,109,119A/C—uncertain significance
rs1492594174:123,109,169T/C—likely benign
rs12002353134:123,109,194C/T—likely pathogenic
rs7544776494:123,109,215C/T—uncertain significance
rs17411520094:123,109,230C/T—uncertain significance
rs676255624:123,109,335A/C—benign
rs76877164:123,110,956A/G—benign
rs12169733574:123,111,152T/C—uncertain significance
rs681071024:123,111,354C/A—benign
rs726870294:123,113,352A/G—benign
rs13509598414:123,113,386C/T—uncertain significance
rs1998610124:123,113,393C/T—uncertain significance
rs1431876834:123,113,394G/A—benign
rs7586411314:123,113,426T/G—uncertain significance
rs746436404:123,113,428A/G—benign
rs7603803764:123,113,511T/C—likely benign
rs623239364:123,117,729T/C—benign
rs24805683824:123,117,825A/G—uncertain significance
rs24805702554:123,117,860G/A—uncertain significance
rs11880131064:123,117,893C/T—likely pathogenic
rs7682837934:123,117,926T/C—likely benign
rs623239374:123,117,955T/C—benign
rs12006330944:123,118,411A/G—uncertain significance
rs24806045414:123,118,413G/A—uncertain significance
rs729259114:123,120,395G/A—benign
rs24807573824:123,120,520C/A—uncertain significance
rs12468472734:123,120,522C/G—uncertain significance
rs7733258814:123,120,525G/T—uncertain significance
rs24807583834:123,120,535G/A—likely pathogenic
rs1816744324:123,120,614G/A—benign
rs15792065454:123,122,162A/G—likely pathogenic
rs17460271854:123,122,193A/G—uncertain significance
rs3738341354:123,122,204C/T—uncertain significance
rs3676301094:123,122,205G/A—likely benign
rs7810056274:123,122,242A/T—uncertain significance
rs7504652354:123,122,285A/G—uncertain significance
rs100343614:123,122,377A/G—benign
rs65343444:123,122,440T/C—benign
rs3766407694:123,128,320A/C—likely benign
rs7558383994:123,128,340T/C—uncertain significance
rs24812041384:123,128,420G/A—uncertain significance
rs774097034:123,128,579G/A—benign
rs782924704:123,128,687C/A—likely benign
rs7474929804:123,128,692G/T—benign
rs7605758324:123,128,705C/T—uncertain significance
rs3766394664:123,128,750C/T—uncertain significance
rs13971540224:123,128,795T/G—likely pathogenic
rs729259234:123,128,843T/G—benign
rs750344094:123,128,901T/A—benign
rs17493707334:123,130,323G/A—uncertain significance
rs7779700474:123,130,347G/A—uncertain significance
rs24813915384:123,130,450A/G—uncertain significance
rs729259244:123,130,479G/A—likely benign
rs76564794:123,130,886A/G—benign
rs7546076074:123,130,984T/C—likely benign
rs2016348374:123,130,998G/T—uncertain significance
rs7608422764:123,131,040A/G—uncertain significance
rs7766265394:123,131,055G/T—uncertain significance
rs100239714:123,131,248G/A—benign
rs9875954034:123,132,140A/G—likely benign
rs13702197444:123,132,174A/G—uncertain significance
rs3688068354:123,132,180A/G—uncertain significance
rs24815385564:123,132,201C/A—uncertain significance
rs1509570324:123,140,497A/G—likely benign
rs11623534814:123,140,528G/A—uncertain significance
rs3733696604:123,140,555G/A—conflicting classifications of pathogenicity
rs752081544:123,140,602A/T—benign
rs10488935544:123,140,651C/G—uncertain significance
rs17531173214:123,140,678A/G—likely pathogenic

Showing 100 of 441 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.