PCDH7

protocadherin 7

Summary

This gene belongs to the protocadherin gene family, a subfamily of the cadherin superfamily. The gene encodes a protein with an extracellular domain containing 7 cadherin repeats. The gene product is an integral membrane protein that is thought to function in cell-cell recognition and adhesion. Alternative splicing yields isoforms with unique cytoplasmic tails. [provided by RefSeq, Jul 2008]

Known Variants80 total

rsidPosition (GRCh37)AllelesClassClinVar
rs24748865414:30,723,066G/Auncertain significance
rs1392220244:30,723,140G/Cuncertain significance
rs24748869074:30,723,144C/Auncertain significance
rs3713769634:30,723,172C/Tuncertain significance
rs9606716564:30,723,328A/Guncertain significance
rs2008088144:30,723,403C/Tuncertain significance
rs21092240364:30,723,433A/Glikely benign
rs9254692984:30,723,452C/Guncertain significance
rs3766302944:30,723,463C/Tuncertain significance
rs8797342484:30,723,496C/Tuncertain significance
rs7726709094:30,723,543G/Tuncertain significance
rs9338341914:30,723,652G/Tuncertain significance
rs24748892834:30,723,669G/Auncertain significance
rs7643036684:30,723,726G/Tuncertain significance
rs12253058944:30,723,729T/Guncertain significance
rs7787610774:30,723,762C/Tuncertain significance
rs7747404404:30,723,910C/Guncertain significance
rs7734159824:30,723,921A/Guncertain significance
rs12296245294:30,723,927C/Tuncertain significance
rs620009784:30,724,178G/Abenign
rs24748914664:30,724,219A/Cuncertain significance
rs359417074:30,724,235C/Tbenign
rs7461665004:30,724,287A/Guncertain significance
rs7693636344:30,724,315C/Guncertain significance
rs2020169714:30,724,317C/Tuncertain significance
rs7723660624:30,724,337C/Auncertain significance
rs12994406734:30,724,401G/Auncertain significance
rs7487389214:30,724,502C/Auncertain significance
rs14171308244:30,724,536A/Guncertain significance
rs7772880074:30,724,554G/Auncertain significance
rs1417223284:30,724,609T/Cuncertain significance
rs7799020604:30,724,615A/Guncertain significance
rs3737070844:30,724,646G/Auncertain significance
rs10306175254:30,724,693C/Tuncertain significance
rs14861241324:30,724,711C/Guncertain significance
rs357090734:30,724,748C/Tbenign
rs7758753574:30,724,791G/Auncertain significance
rs24748936684:30,724,881G/Auncertain significance
rs24748936804:30,724,890A/Guncertain significance
rs3685056334:30,724,915C/Auncertain significance
rs7672167504:30,725,001C/Auncertain significance
rs24748940634:30,725,034A/Tuncertain significance
rs11682423934:30,725,194G/Cuncertain significance
rs7515377294:30,725,232C/Auncertain significance
rs2014046854:30,725,259G/Auncertain significance
rs360379954:30,725,272C/Tbenign
rs1483941914:30,725,496G/Tuncertain significance
rs1424691514:30,725,539C/Tuncertain significance
rs7598407094:30,725,674G/Auncertain significance
rs8684722074:30,725,685G/Auncertain significance
rs779590664:30,725,693C/Tbenign
rs13386358134:30,725,694G/Auncertain significance
rs1410076194:30,725,734T/Cuncertain significance
rs2009301974:30,725,801C/Auncertain significance
rs24748963214:30,725,831C/Guncertain significance
rs2020596404:30,726,045C/Tuncertain significance
rs7766047934:30,726,068T/Auncertain significance
rs3731850434:30,726,105G/Auncertain significance
rs1412130974:30,726,142C/Tuncertain significance
rs92915474:30,749,654A/T
rs68223504:30,801,477C/Aintron variant
rs76858134:30,832,497A/C
rs44934944:30,836,543G/Aintron variant
rs13746574:30,837,143C/G
rs732149034:30,839,806A/Gintron variant
rs45274444:30,842,780A/Gintron variant
rs76798534:30,908,922A/Gintron variant
rs99927044:30,952,942G/Aregulatory region variant
rs108053014:30,959,927G/C
rs76975784:30,974,646A/Gintron variant
rs76691244:31,019,816G/Aintron variant
rs64487404:31,053,009C/T
rs5681526094:31,060,113T/C
rs20362444:31,082,654G/Aregulatory region variant
rs601594184:31,120,752G/Aintron variant
rs76759164:31,143,818C/Tintron variant
rs570218514:31,144,153G/Abenign
rs1486293284:31,144,189C/Tbenign
rs7588971054:31,144,260A/Cuncertain significance
rs2013679434:31,144,294G/Cuncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.