PCDH15

protocadherin related 15

Summary

This gene is a member of the cadherin superfamily. Family members encode integral membrane proteins that mediate calcium-dependent cell-cell adhesion. It plays an essential role in maintenance of normal retinal and cochlear function. Mutations in this gene result in hearing loss and Usher Syndrome Type IF (USH1F). Extensive alternative splicing resulting in multiple isoforms has been observed in the mouse ortholog. Similar alternatively spliced transcripts are inferred to occur in human, and additional variants are likely to occur. [provided by RefSeq, Dec 2008]

Known Variants2,392 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14632649610:55,566,323T/G—likely benign
rs87665795010:55,566,325T/C—uncertain significance
rs155481461110:55,566,347T/A—uncertain significance
rs1770470310:55,566,406T/G—benign
rs7460930610:55,566,438T/C—benign
rs155481468310:55,566,470G/A—uncertain significance
rs75548735110:55,566,508A/G—uncertain significance
rs57231303010:55,566,510C/T—likely benign
rs77788634110:55,566,517T/C—uncertain significance
rs37724481110:55,566,540G/A—uncertain significance
rs249207336510:55,566,545A/T—uncertain significance
rs20015551910:55,566,671G/A—conflicting classifications of pathogenicity
rs14877270610:55,566,702C/T—likely benign
rs77584554610:55,566,722T/C—uncertain significance
rs19010598410:55,566,759G/A—likely benign
rs18130608610:55,566,761C/T—conflicting classifications of pathogenicity
rs36809608510:55,566,804C/T—likely benign
rs19983482910:55,566,850T/G—uncertain significance
rs77041610710:55,566,854G/A—uncertain significance
rs155481499110:55,566,892T/C—uncertain significance
rs7461565210:55,568,329C/T—benign
rs19318624410:55,568,454A/G—conflicting classifications of pathogenicity
rs37327586710:55,568,467G/A—likely benign
rs75102245110:55,568,472C/A—uncertain significance
rs57215272210:55,568,476A/G—likely benign
rs75659169310:55,568,491C/A—likely benign
rs13944164510:55,568,527T/C—likely benign
rs77564144510:55,568,528G/A—uncertain significance
rs14517858210:55,568,530T/C—likely benign
rs129742357610:55,568,556C/A—uncertain significance
rs249210935410:55,568,559A/G—uncertain significance
rs76617198510:55,568,562G/A—uncertain significance
rs18545708610:55,568,579C/T—uncertain significance
rs709040810:55,568,589C/T—likely benign
rs77420000310:55,568,628C/G—uncertain significance
rs249211187210:55,568,659G/A—likely benign
rs19051533010:55,568,673C/T—conflicting classifications of pathogenicity
rs18217554810:55,568,674A/G—likely benign
rs89717633110:55,568,676G/A—uncertain significance
rs88604251810:55,568,683A/T—uncertain significance
rs128590544310:55,568,692C/T—likely benign
rs37119141410:55,568,700C/T—uncertain significance
rs36839750810:55,568,757G/A—uncertain significance
rs76149622210:55,568,764T/C—likely benign
rs76558905010:55,568,766G/A—uncertain significance
rs75892239810:55,568,781T/A—uncertain significance
rs75500533610:55,568,793C/A—uncertain significance
rs76143148410:55,568,848T/C—uncertain significance
rs131588072310:55,568,858T/A—uncertain significance
rs18363159210:55,568,876G/A—conflicting classifications of pathogenicity
rs1693776810:55,568,878T/G—likely benign
rs73088002110:55,568,898A/G—uncertain significance
rs146745318910:55,568,904C/A—uncertain significance
rs77602052310:55,568,920T/C—likely benign
rs249211954910:55,568,923C/G—uncertain significance
rs37218402210:55,568,961T/C—uncertain significance
rs53157443710:55,568,971C/G—likely benign
rs1100386310:55,568,972T/G—benign
rs75134404810:55,568,989A/G—likely benign
rs56638613310:55,569,093G/A—uncertain significance
rs105639694710:55,569,099G/Astop gainedpathogenic
rs158887543410:55,569,110C/A—uncertain significance
rs93568263010:55,569,124G/A—likely benign
rs1693776910:55,569,202T/G—benign
rs14541878810:55,569,207G/A—likely benign
rs105258726610:55,569,212G/T—uncertain significance
rs1235924010:55,569,229G/A—likely benign
rs54319621110:55,569,249C/T—likely benign
rs77836238510:55,569,252C/A—uncertain significance
rs14920892810:55,569,263T/G—likely benign
rs20185543510:55,569,270T/C—conflicting classifications of pathogenicity
rs56059980110:55,569,285T/C—uncertain significance
rs155481590910:55,569,307C/T—uncertain significance
rs14515389810:55,569,351C/G—likely benign
rs1076300710:55,569,563A/T—benign
rs6186236010:55,569,567T/G—benign
rs1076300810:55,569,569C/A—benign
rs11309301110:55,570,200C/T—likely benign
rs18328067310:55,570,254C/T—likely benign
rs7652882910:55,570,300A/C—benign
rs75465992110:55,570,338T/C—uncertain significance
rs20079687110:55,570,343T/C—likely benign
rs4127462210:55,570,347T/C—benign
rs158888014610:55,570,361A/G—likely benign
rs155481619610:55,570,369C/A—uncertain significance
rs155481621010:55,570,380G/A—uncertain significance
rs155481621110:55,570,384G/T—uncertain significance
rs77096727810:55,570,395C/T—uncertain significance
rs36838045110:55,570,398C/T—likely benign
rs37171791210:55,570,399G/A—uncertain significance
rs13950722810:55,571,074G/A—likely benign
rs11555938310:55,571,345T/C—uncertain significance
rs155481650910:55,571,367C/T—uncertain significance
rs18513603910:55,571,480T/C—likely benign
rs86931203610:55,572,570C/T—benign
rs1082511310:55,580,557G/Adownstream gene variant—
rs89851005310:55,581,018G/T—uncertain significance
rs88604705410:55,581,060A/T—uncertain significance
rs57177986910:55,581,106C/G—uncertain significance
rs207626119610:55,581,108A/G—uncertain significance

Showing 100 of 2,392 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.