SEZ6L2

seizure related 6 homolog like 2

Summary

This gene encodes a seizure-related protein that is localized on the cell surface. The gene is located in a region of chromosome 16p11.2 that is thought to contain candidate genes for autism spectrum disorders (ASD), though there is no evidence directly implicating this gene in ASD. Increased expression of this gene has been found in lung cancers, and the protein is therefore considered to be a novel prognostic marker for lung cancer. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Aug 2011]

Known Variants65 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1291771216:29,882,490C/Tdownstream gene variant—
rs254339851116:29,883,585A/T—uncertain significance
rs14966680416:29,883,758C/T—uncertain significance
rs19979510916:29,883,767T/C—uncertain significance
rs206780449216:29,883,776C/T—uncertain significance
rs14543804416:29,883,801C/G—likely benign
rs76772182116:29,884,627C/T—uncertain significance
rs13937300716:29,884,727C/T—benign
rs74579977616:29,884,747A/G—uncertain significance
rs20008170016:29,884,907G/A—uncertain significance
rs36830326016:29,885,045T/G—uncertain significance
rs37205733716:29,885,047A/G—uncertain significance
rs478748316:29,885,447A/Gintron variant—
rs77673962616:29,888,248G/A—uncertain significance
rs74800328916:29,888,646G/A—uncertain significance
rs74919696016:29,888,741C/T—uncertain significance
rs74549139516:29,888,745C/T—uncertain significance
rs76362192416:29,888,763G/C—uncertain significance
rs13997559216:29,889,725G/A—uncertain significance
rs14221543116:29,889,732C/T—uncertain significance
rs19305578816:29,891,226G/A—uncertain significance
rs14914925616:29,891,371G/A—uncertain significance
rs14522677716:29,896,989G/A—benign
rs75825735616:29,896,995C/G—likely benign
rs78003136516:29,896,996C/T—uncertain significance
rs75168587716:29,896,997G/A—uncertain significance
rs120597195116:29,897,021A/C—uncertain significance
rs37728303216:29,897,034G/A—likely benign
rs15065009216:29,897,052C/T—benign
rs11744884416:29,899,021C/T—likely benign
rs121209792416:29,899,119G/C—uncertain significance
rs56018059916:29,899,934C/T—likely benign
rs54596763516:29,900,017G/A—uncertain significance
rs478748416:29,906,546C/G——
rs19966511616:29,906,604C/T—uncertain significance
rs77615743916:29,906,619G/A—uncertain significance
rs77529066216:29,906,704T/G—likely benign
rs20111829816:29,906,727C/T—uncertain significance
rs7401764716:29,906,764C/G—benign
rs14933137716:29,906,773C/T—benign
rs14459245816:29,906,774G/A—likely benign
rs120138948016:29,907,098G/C—uncertain significance
rs36942301116:29,907,110G/A—uncertain significance
rs76483964416:29,908,175G/A—uncertain significance
rs75806910116:29,908,185T/C—uncertain significance
rs14041214116:29,908,195C/T—likely benign
rs37452662516:29,908,263C/T—uncertain significance
rs74726837116:29,908,298G/A—uncertain significance
rs86902525616:29,908,331G/A—likely benign
rs75931948016:29,908,361G/A—uncertain significance
rs133090959616:29,908,373C/T—uncertain significance
rs76708935116:29,908,374G/A—uncertain significance
rs18405609316:29,908,385G/A—benign
rs20031536516:29,908,392C/A—uncertain significance
rs77325464916:29,908,409G/A—uncertain significance
rs18780417616:29,908,412G/A—benign
rs7626567316:29,908,432C/T—benign
rs77350193516:29,909,180G/C—uncertain significance
rs254345692216:29,909,185C/A—uncertain significance
rs11813127416:29,909,271C/T—benign
rs147256071116:29,909,300G/C—uncertain significance
rs18236559416:29,910,274G/A—likely benign
rs37678311716:29,910,310G/A—uncertain significance
rs54176944416:29,910,315G/C—uncertain significance
rs159699847816:29,910,317G/A—likely benign

Gene information from NCBI Gene. Variant classifications from ClinVar.