B3GLCT

beta 3-glucosyltransferase

Summary

The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]

Known Variants264 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14444315413:31,774,060A/G—likely benign
rs76042538113:31,774,186C/G—uncertain significance
rs75912010513:31,774,238G/A—uncertain significance
rs186855520613:31,774,249C/T—uncertain significance
rs132301157113:31,774,251C/T—uncertain significance
rs186855541713:31,774,253C/A—uncertain significance
rs75331396313:31,774,260G/C—conflicting classifications of pathogenicity
rs120158019613:31,774,263G/A—likely benign
rs99917307813:31,774,277T/C—uncertain significance
rs147898825413:31,774,282T/G—uncertain significance
rs133617223713:31,774,296G/A—uncertain significance
rs127873152313:31,774,305G/A—likely benign
rs86706077613:31,774,420C/G—likely benign
rs56954012113:31,789,179T/C—conflicting classifications of pathogenicity
rs20158451013:31,789,187G/T—likely pathogenic
rs14816437013:31,789,204T/A—uncertain significance
rs86770596713:31,789,212C/A—uncertain significance
rs77615947213:31,789,222G/A—uncertain significance
rs147559107913:31,789,230A/G—uncertain significance
rs75222328213:31,789,231G/C—uncertain significance
rs75206275013:31,789,247C/A—likely benign
rs214751513:31,796,969G/C—benign
rs381841513:31,797,006A/G—benign
rs75502826813:31,797,089G/C—uncertain significance
rs77903572713:31,797,095G/A—uncertain significance
rs57278598913:31,797,097G/C—uncertain significance
rs77528319213:31,797,147T/A—likely benign
rs131421326913:31,803,315G/T—likely benign
rs77999263113:31,803,321G/T—likely pathogenic
rs57713666013:31,803,331G/C—conflicting classifications of pathogenicity
rs37765039413:31,803,333A/G—uncertain significance
rs37097849113:31,803,341C/T—likely benign
rs37566701113:31,803,342G/A—uncertain significance
rs77702039113:31,803,351A/G—uncertain significance
rs14115494713:31,803,392A/G—likely benign
rs75608910613:31,803,400G/A—uncertain significance
rs187025426113:31,803,417G/T—uncertain significance
rs75144135413:31,803,425T/C—conflicting classifications of pathogenicity
rs75925729113:31,803,435C/T—uncertain significance
rs56725976613:31,803,440C/T—likely benign
rs133673135713:31,803,446C/G—likely benign
rs954223613:31,819,325T/Cintron variantnot provided
rs798976113:31,819,384A/G——
rs11273816713:31,820,951A/G—likely benign
rs954230013:31,821,093T/C—benign
rs7912772813:31,821,122C/T—likely benign
rs11711113113:31,821,148T/C—likely benign
rs18332281613:31,821,152T/C—conflicting classifications of pathogenicity
rs37042563813:31,821,162G/A—likely benign
rs954230513:31,821,177C/T—conflicting classifications of pathogenicity
rs76198980713:31,821,178C/T—uncertain significance
rs93293593313:31,821,180C/A—likely benign
rs36869357913:31,821,186T/C—likely benign
rs20037629413:31,821,204A/G—benign
rs13799389813:31,821,209C/G—uncertain significance
rs37232469213:31,821,224C/T—uncertain significance
rs75114629113:31,821,225G/A—likely benign
rs14242171613:31,821,233C/T—uncertain significance
rs956469213:31,821,240C/T—benign
rs8033885013:31,821,241G/Asplice region variantpathogenic
rs78056243813:31,821,251C/T—likely benign
rs954230713:31,821,256C/G—benign
rs11642272813:31,821,331A/G—likely benign
rs102288513:31,821,469A/G—benign
rs213707513:31,821,505A/G—benign
rs187126265913:31,821,984T/C—likely benign
rs494326613:31,821,992T/C—benign
rs13993498813:31,822,028T/A—likely benign
rs36925161013:31,822,065A/G—uncertain significance
rs125277789213:31,822,078C/T—uncertain significance
rs14174358013:31,822,094C/A—likely benign
rs76736116513:31,822,104G/A—pathogenic
rs954272913:31,833,578C/A——
rs7317288613:31,835,011C/T—benign
rs76151944013:31,835,075T/A—likely benign
rs77279945613:31,835,086T/C—uncertain significance
rs97670873413:31,835,089T/A—uncertain significance
rs250067296113:31,835,119G/A—uncertain significance
rs11663930513:31,835,127A/G—uncertain significance
rs156606818713:31,835,134C/T—uncertain significance
rs74598070813:31,835,142C/G—likely benign
rs15102697513:31,835,148C/T—likely benign
rs75690796813:31,835,160A/C—likely benign
rs54575315313:31,835,201G/A—likely pathogenic
rs250067344013:31,835,208A/G—likely benign
rs213783062213:31,835,229T/C—likely benign
rs494328913:31,835,375G/A—benign
rs494329013:31,836,367G/Tintron variant—
rs250068896813:31,843,375A/T—uncertain significance
rs37024512413:31,843,397A/G—uncertain significance
rs8033885113:31,843,415G/Asplice region variantpathogenic
rs7720242513:31,843,497A/G—benign
rs192481713:31,843,598G/A—benign
rs1707573913:31,843,626A/G—benign
rs192481813:31,843,664A/G—benign
rs954323413:31,848,383A/G—benign
rs11712192513:31,848,398G/A—likely benign
rs91260013:31,848,535G/A—benign
rs37148807513:31,848,639G/A—likely benign
rs3501974513:31,848,657C/T—benign

Showing 100 of 264 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.