PCDH12

protocadherin 12

Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The encoded protein consists of an extracellular domain containing 6 cadherin repeats, a transmembrane domain and a cytoplasmic tail that differs from those of the classical cadherins. The gene localizes to the region on chromosome 5 where the protocadherin gene clusters reside. The exon organization of this transcript is similar to that of the gene cluster transcripts, notably the first large exon, but no significant sequence homology exists. The function of this cellular adhesion protein is undetermined but mouse protocadherin 12 does not bind catenins and appears to have no affect on cell migration or growth. [provided by RefSeq, Jul 2008]

Known Variants355 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7541947895:141,324,979G/C—uncertain significance
rs7575851835:141,324,981T/C—uncertain significance
rs7472031995:141,324,985G/T—likely benign
rs5683938975:141,324,988C/G—benign
rs3772404875:141,324,996C/T—uncertain significance
rs7706338225:141,324,997C/T—likely benign
rs7742663145:141,324,998G/A—uncertain significance
rs25325297475:141,325,033T/A—likely benign
rs14899530065:141,325,034G/C—uncertain significance
rs9515306175:141,325,051C/T—likely benign
rs7621723275:141,325,056C/A—uncertain significance
rs11919574585:141,325,067G/A—uncertain significance
rs7807370425:141,325,075G/A—likely benign
rs7516410875:141,325,076C/T—uncertain significance
rs7483121935:141,325,081C/T—likely benign
rs7564145035:141,325,082G/A—uncertain significance
rs7785528115:141,325,088C/T—uncertain significance
rs1434216665:141,325,089G/A—conflicting classifications of pathogenicity
rs5308212235:141,325,091C/T—benign
rs1999285815:141,325,097G/A—conflicting classifications of pathogenicity
rs10460959035:141,325,101C/G—uncertain significance
rs5508268335:141,325,102G/A—likely benign
rs7613601185:141,325,107C/T—uncertain significance
rs7745174655:141,325,108G/A—likely benign
rs7556085355:141,325,121A/G—uncertain significance
rs7780877175:141,325,131G/A—uncertain significance
rs13501320115:141,325,137C/G—uncertain significance
rs7582075055:141,325,140G/A—likely benign
rs7469481225:141,325,146T/G—uncertain significance
rs1380350715:141,325,147C/G—likely benign
rs25325302295:141,325,156T/C—likely benign
rs1420280655:141,325,168C/T—likely benign
rs7633421325:141,325,169G/A—uncertain significance
rs7681112435:141,325,193G/A—uncertain significance
rs12387108445:141,325,212C/G—uncertain significance
rs7798142085:141,325,230C/T—uncertain significance
rs7812085735:141,325,234C/T—likely benign
rs1413875505:141,325,235G/A—uncertain significance
rs7693517235:141,325,236T/C—uncertain significance
rs1056335:141,325,249T/C—benign
rs1380611225:141,325,250G/A—uncertain significance
rs9906598475:141,325,251G/C—uncertain significance
rs3755222375:141,325,255C/T—likely benign
rs2010553595:141,325,257C/G—likely benign
rs1442110095:141,325,280A/G—likely benign
rs1896520515:141,325,292C/T—likely benign
rs7488460275:141,325,318G/C—likely benign
rs3756144225:141,325,324C/T—likely benign
rs2021683965:141,325,336C/T—likely benign
rs1400943715:141,325,337G/A—conflicting classifications of pathogenicity
rs2014207455:141,325,347C/T—likely benign
rs7673298525:141,325,355C/T—uncertain significance
rs2002334945:141,325,356G/A—uncertain significance
rs21269152325:141,325,359C/T—uncertain significance
rs3690882985:141,325,379G/A—likely benign
rs774232865:141,325,467G/A—benign
rs3680003775:141,329,005G/A—uncertain significance
rs13954935855:141,329,022C/T—likely benign
rs13595128685:141,329,058C/T—likely benign
rs617371415:141,329,059T/G—benign
rs3722952065:141,329,075G/T—benign
rs7796068015:141,329,084C/T—uncertain significance
rs21269195355:141,329,094G/T—conflicting classifications of pathogenicity
rs25325382205:141,329,151G/A—uncertain significance
rs351531995:141,330,954C/T—benign
rs25325421765:141,331,043C/T—likely benign
rs7659867895:141,331,047G/A—likely benign
rs1396829365:141,331,075G/A—likely benign
rs25325425375:141,331,086T/G—uncertain significance
rs21269221875:141,331,088T/C—uncertain significance
rs7460753975:141,331,094C/T—uncertain significance
rs1157350665:141,331,098G/A—benign
rs2007047595:141,331,103G/T—uncertain significance
rs10474201785:141,331,124T/C—uncertain significance
rs9089641425:141,331,131G/T—uncertain significance
rs7479075835:141,334,566C/T—uncertain significance
rs1419909445:141,334,572C/T—uncertain significance
rs1410837075:141,334,573G/A—likely benign
rs7738104995:141,334,575G/A—uncertain significance
rs3758408105:141,334,580C/T—uncertain significance
rs3759304145:141,334,585G/A—likely benign
rs5513125425:141,334,587C/T—conflicting classifications of pathogenicity
rs1498825455:141,334,588G/A—likely benign
rs17531511125:141,334,615G/T—uncertain significance
rs7773965555:141,334,624G/T—likely benign
rs3730915415:141,334,631C/T—conflicting classifications of pathogenicity
rs1828600365:141,334,632G/A—uncertain significance
rs9061450485:141,334,636C/T—likely benign
rs1998487145:141,334,644C/G—uncertain significance
rs7602237685:141,334,651A/G—likely benign
rs9643167405:141,334,654G/A—likely benign
rs3705073145:141,334,674G/T—likely benign
rs5740875815:141,334,683G/A—conflicting classifications of pathogenicity
rs1475584785:141,334,704C/T—uncertain significance
rs617371405:141,334,721G/A—benign
rs7702653255:141,334,750C/T—likely benign
rs1400055365:141,334,760G/A—benign
rs21269269335:141,334,766C/T—uncertain significance
rs617371385:141,334,782G/C—benign
rs7675676815:141,334,790C/T—uncertain significance

Showing 100 of 355 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.