PRICKLE2

prickle planar cell polarity protein 2

Summary

This gene encodes a homolog of Drosophila prickle. The exact function of this gene is not known, however, studies in mice suggest that it may be involved in seizure prevention. Mutations in this gene are associated with progressive myoclonic epilepsy type 5. [provided by RefSeq, Dec 2011]

Known Variants533 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1537343:64,078,009C/G——
rs10564197733:64,079,635A/G—uncertain significance
rs1909667823:64,079,733G/A—uncertain significance
rs7502748263:64,079,850G/A—uncertain significance
rs1537333:64,079,930C/T—benign
rs8860587813:64,079,940A/G—uncertain significance
rs9811639623:64,079,958T/C—uncertain significance
rs1537323:64,079,994C/T—benign
rs8860587823:64,080,132A/T—uncertain significance
rs14042177163:64,080,196A/G—uncertain significance
rs5754106683:64,080,255C/A—uncertain significance
rs7462493443:64,080,272T/C—uncertain significance
rs1861862363:64,080,373G/C—likely benign
rs5380693373:64,080,397T/A—uncertain significance
rs8860587833:64,080,470A/G—uncertain significance
rs140563:64,080,489G/A—benign
rs13890846583:64,080,531A/C—uncertain significance
rs20765487583:64,080,545A/G—uncertain significance
rs8860587843:64,080,618G/C—uncertain significance
rs8860587853:64,080,656T/C—uncertain significance
rs1409312833:64,080,670C/T—likely benign
rs5448257763:64,080,863A/G—uncertain significance
rs8860587863:64,080,865G/T—uncertain significance
rs1537313:64,080,875G/T—likely benign
rs5748789143:64,080,897A/G—uncertain significance
rs7565318773:64,080,972T/C—uncertain significance
rs9049077093:64,081,055G/C—uncertain significance
rs1406816303:64,081,095A/G—uncertain significance
rs9774866423:64,081,187G/A—uncertain significance
rs5380540923:64,081,223G/A—uncertain significance
rs13587724493:64,081,226G/C—uncertain significance
rs20765608823:64,081,231C/T—uncertain significance
rs1537303:64,081,236C/T—benign
rs1430621403:64,081,238T/C—likely benign
rs20765626933:64,081,369A/T—uncertain significance
rs9116670343:64,081,384C/T—uncertain significance
rs728746093:64,081,394A/G—benign
rs5316393863:64,081,402C/T—uncertain significance
rs5289299963:64,081,549C/G—likely benign
rs10453439583:64,081,611G/A—uncertain significance
rs13451987963:64,081,662G/T—uncertain significance
rs5452764423:64,081,818A/T—uncertain significance
rs347234513:64,081,836G/A—benign
rs8860587873:64,081,871G/C—uncertain significance
rs359694333:64,081,930T/A—benign
rs5308041903:64,081,945G/C—uncertain significance
rs273833:64,081,955T/C—benign
rs124947313:64,082,003T/G—benign
rs20765730783:64,082,061C/A—uncertain significance
rs1404204173:64,082,094C/T—likely benign
rs622498813:64,082,160T/A—benign
rs9059717253:64,082,252C/T—uncertain significance
rs562627083:64,082,280T/C—benign
rs1845443593:64,082,336G/A—uncertain significance
rs1929713263:64,082,437A/G—uncertain significance
rs8660602883:64,082,439G/A—uncertain significance
rs5508418593:64,082,458A/G—likely benign
rs8860587883:64,082,520G/A—uncertain significance
rs20765797723:64,082,625C/T—uncertain significance
rs5776362823:64,082,638G/A—uncertain significance
rs5706165233:64,082,736G/A—uncertain significance
rs3777525233:64,082,745T/C—uncertain significance
rs8860587893:64,082,757A/G—uncertain significance
rs8860587903:64,082,763G/A—uncertain significance
rs8860587913:64,082,859C/G—uncertain significance
rs269393:64,082,964T/C—benign
rs9380480413:64,083,045G/A—uncertain significance
rs20765862083:64,083,080A/T—uncertain significance
rs14056692243:64,083,094C/T—uncertain significance
rs20765867273:64,083,106T/C—uncertain significance
rs269383:64,083,122A/C—benign
rs622498823:64,083,138C/T—benign
rs5584824443:64,083,159G/A—uncertain significance
rs8860587923:64,083,167G/A—uncertain significance
rs20765881823:64,083,219T/C—uncertain significance
rs8792976403:64,083,232A/G—uncertain significance
rs8860587933:64,083,251T/C—uncertain significance
rs170698793:64,083,417A/G—benign
rs9341933313:64,083,435T/C—uncertain significance
rs170698803:64,083,450G/C—benign
rs9523451943:64,083,453G/A—uncertain significance
rs7647840093:64,083,570C/G—uncertain significance
rs7523345833:64,083,613G/A—uncertain significance
rs1113622973:64,083,683G/A—benign
rs8860587943:64,083,732G/T—uncertain significance
rs9535056153:64,083,784C/A—uncertain significance
rs269373:64,084,032G/T—benign
rs7797198723:64,084,037C/T—uncertain significance
rs8860587963:64,084,145T/A—uncertain significance
rs5284639503:64,084,167A/T—uncertain significance
rs1487246343:64,084,258C/A—uncertain significance
rs1422637763:64,084,581G/A—uncertain significance
rs3705693053:64,084,594C/T—likely benign
rs5754145543:64,084,662C/T—uncertain significance
rs7481223393:64,084,730A/G—likely benign
rs20766106773:64,084,736G/A—likely benign
rs24710999333:64,084,738T/C—uncertain significance
rs7604033633:64,084,745T/C—likely benign
rs14741599133:64,084,751C/T—likely benign
rs21069347073:64,084,769G/A—likely benign

Showing 100 of 533 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.