ZP1

zona pellucida glycoprotein 1

Summary

The zona pellucida is an extracellular matrix that surrounds the oocyte and early embryo. It is composed primarily of three or four glycoproteins with various functions during fertilization and preimplantation development. The protein encoded by this gene ensures the structural integrity of the zona pellucida. Mutations in this gene are a cause of oocyte maturation defect and infertility. [provided by RefSeq, May 2014]

Known Variants66 total

rsidPosition (GRCh37)AllelesClassClinVar
rs142865982611:60,635,048C/T—uncertain significance
rs55047911:60,635,091T/C—benign
rs76598932711:60,635,092G/A—uncertain significance
rs75902572711:60,635,099T/C—uncertain significance
rs249613348511:60,635,101G/A—uncertain significance
rs77926862211:60,635,106G/A—uncertain significance
rs76272463811:60,635,158G/A—uncertain significance
rs14096635311:60,636,633G/A—conflicting classifications of pathogenicity
rs249613663011:60,636,637T/A—uncertain significance
rs14506788311:60,636,698G/A—likely benign
rs11572101911:60,636,706G/A—benign
rs249613694211:60,636,711A/C—uncertain significance
rs75819929511:60,636,728G/C—uncertain significance
rs53632774811:60,636,876G/A——
rs14570730111:60,637,010G/A—benign
rs19956623411:60,637,062G/A—likely benign
rs75481759411:60,637,082G/A—likely benign
rs37753007811:60,637,103C/T—uncertain significance
rs55971495111:60,637,134T/C—uncertain significance
rs48917211:60,637,164C/T—benign
rs14932540211:60,637,235C/G—uncertain significance
rs20015161811:60,637,269C/A—uncertain significance
rs77651517211:60,637,319C/T—pathogenic
rs185554188111:60,637,819C/G—uncertain significance
rs13792754011:60,637,822G/A—uncertain significance
rs14339043311:60,637,844G/A—uncertain significance
rs14713450411:60,637,861G/A—uncertain significance
rs76950960111:60,637,891C/T—pathogenic
rs1089712211:60,638,461C/T—benign
rs37215034511:60,638,472T/C—uncertain significance
rs119423143811:60,638,491G/C—uncertain significance
rs36770879711:60,638,501A/G—uncertain significance
rs14584801411:60,638,573G/A—uncertain significance
rs78086682811:60,638,697G/A—uncertain significance
rs134846980811:60,638,708A/C—uncertain significance
rs185556271811:60,638,709T/C—uncertain significance
rs213483045511:60,638,712A/G—uncertain significance
rs19984378211:60,638,778G/A—uncertain significance
rs207209811:60,640,480C/A—benign
rs76381257911:60,640,645C/T—uncertain significance
rs14131801411:60,640,660G/A—uncertain significance
rs128163507111:60,640,729G/A—uncertain significance
rs19961150811:60,640,751G/A—uncertain significance
rs77217230811:60,640,757C/T—uncertain significance
rs14026588511:60,640,850G/A—uncertain significance
rs36953567311:60,640,919G/A—uncertain significance
rs14371572811:60,640,951C/T—likely benign
rs77389806711:60,640,985G/A—conflicting classifications of pathogenicity
rs75070391911:60,641,033G/A—uncertain significance
rs159059499011:60,641,038G/T—pathogenic
rs135400889711:60,641,143G/A—uncertain significance
rs19990854611:60,641,153G/T—uncertain significance
rs249615570511:60,641,157G/A—uncertain significance
rs92604232311:60,641,175C/T—uncertain significance
rs207441811:60,642,325G/A—benign
rs76279759911:60,642,431C/T—uncertain significance
rs92689250711:60,642,475A/C—uncertain significance
rs76979944811:60,642,608G/A—uncertain significance
rs11286481411:60,642,633C/T—benign
rs20086611911:60,642,652A/C—uncertain significance
rs76361707611:60,642,655G/A—pathogenic
rs37192480511:60,642,665C/T—uncertain significance
rs53221558111:60,642,673G/A—uncertain significance
rs130736946611:60,642,979T/C—pathogenic
rs55709525011:60,643,027G/A—likely benign
rs249616390211:60,643,065T/C—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.