CC2D2A

coiled-coil and C2 domain containing 2A

Summary

This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Mutations in this gene cause Meckel syndrome type 6, as well as Joubert syndrome type 9. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2009]

Known Variants1,663 total

rsidPosition (GRCh37)AllelesClassClinVar
rs284635774:15,471,432T/C—likely benign
rs8860591354:15,471,522T/C—uncertain significance
rs1454438884:15,471,613G/A—conflicting classifications of pathogenicity
rs7781122154:15,471,653G/A—uncertain significance
rs68195984:15,471,718G/C—benign
rs1839687854:15,474,866G/A—conflicting classifications of pathogenicity
rs117288004:15,474,996C/T—benign
rs100225304:15,475,100A/G—benign
rs5771248554:15,475,276T/C—uncertain significance
rs12103073954:15,477,561A/G—uncertain significance
rs7457346944:15,477,563C/A—uncertain significance
rs7589639624:15,477,566A/G—uncertain significance
rs24748143404:15,477,568G/A—likely benign
rs24748143504:15,477,572G/T—pathogenic
rs24748143824:15,477,581A/T—pathogenic
rs24748145334:15,477,601T/A—uncertain significance
rs13892563564:15,477,602G/A—likely benign
rs7688943274:15,477,603G/A—likely benign
rs13213784594:15,477,605C/A—likely benign
rs24748145964:15,477,611G/C—likely benign
rs24748146074:15,477,615T/C—likely benign
rs131183064:15,477,812C/G—benign
rs99959274:15,480,073T/C—benign
rs1485037294:15,480,168A/C—likely benign
rs99935804:15,480,225C/A—benign
rs24748228704:15,480,329T/G—likely benign
rs24748228994:15,480,334C/T—likely benign
rs17144055804:15,480,347G/A—uncertain significance
rs14557386714:15,480,349G/A—likely benign
rs24748230144:15,480,355T/C—likely benign
rs24748230614:15,480,361T/C—likely benign
rs7553451644:15,480,362G/C—uncertain significance
rs14032390594:15,480,363A/T—uncertain significance
rs17144071444:15,480,365G/A—uncertain significance
rs17144075304:15,480,370T/C—likely benign
rs24748232034:15,480,386C/T—pathogenic
rs5302435714:15,480,397C/T—likely benign
rs7454098064:15,480,404G/A—uncertain significance
rs8969474304:15,480,407C/Tstop gainedpathogenic
rs7560088774:15,480,408G/A—uncertain significance
rs8860442844:15,480,415G/A—conflicting classifications of pathogenicity
rs17144120114:15,480,418A/T—likely benign
rs21089701064:15,480,420G/A—uncertain significance
rs7800103404:15,480,426A/G—uncertain significance
rs21089701204:15,480,428C/T—pathogenic
rs24748234964:15,480,432T/G—likely pathogenic
rs24748235144:15,480,439T/A—likely benign
rs5473897594:15,480,442C/A—likely benign
rs7683958294:15,480,446A/G—likely benign
rs1428217564:15,480,449C/T—likely benign
rs133536244:15,480,482G/A—benign
rs1460659514:15,480,562G/T—likely benign
rs802451004:15,480,665T/G—benign
rs14313799844:15,480,870C/T—likely benign
rs13007736874:15,480,900A/G—uncertain significance
rs24748257904:15,480,906T/C—likely benign
rs24748258264:15,480,913C/T—likely benign
rs13948126124:15,480,958T/G—likely benign
rs1116182364:15,481,084C/G—likely benign
rs764329344:15,481,109G/A—benign
rs100329744:15,482,076C/G—benign
rs11627142044:15,482,310C/T—likely benign
rs24748304304:15,482,314C/A—likely benign
rs7671369514:15,482,315C/T—likely benign
rs10550255204:15,482,319T/C—likely benign
rs18610494:15,482,322C/T—benign
rs9496062634:15,482,327G/C—likely pathogenic
rs11958356304:15,482,334A/G—uncertain significance
rs7658106434:15,482,353T/A—conflicting classifications of pathogenicity
rs3751632844:15,482,356T/C—uncertain significance
rs18610504:15,482,360C/Tsynonymous variantbenign
rs3730807484:15,482,361G/A—uncertain significance
rs7947277134:15,482,369C/G—conflicting classifications of pathogenicity
rs7583247154:15,482,370C/T—uncertain significance
rs7781350284:15,482,378C/T—likely benign
rs10018478374:15,482,381C/T—likely benign
rs5660357974:15,482,383C/T—uncertain significance
rs7459866654:15,482,396G/A—conflicting classifications of pathogenicity
rs17145869134:15,482,405G/A—conflicting classifications of pathogenicity
rs17145880714:15,482,413C/T—uncertain significance
rs619993524:15,482,415C/T—uncertain significance
rs21089736414:15,482,417C/G—likely benign
rs7690777544:15,482,436C/T—uncertain significance
rs7627182104:15,482,437G/A—uncertain significance
rs24748311644:15,482,445C/G—uncertain significance
rs7660424344:15,482,447A/G—conflicting classifications of pathogenicity
rs5279740014:15,482,449G/A—uncertain significance
rs7591354004:15,482,450G/C—uncertain significance
rs7650725834:15,482,452G/A—likely pathogenic
rs12798155894:15,482,459C/T—likely benign
rs12213331864:15,482,460C/G—likely benign
rs7527455364:15,482,463T/G—likely benign
rs11709452994:15,482,464C/T—likely benign
rs15773121814:15,482,469A/G—likely benign
rs100002504:15,482,477G/A—benign
rs68366164:15,482,668A/C—benign
rs1147602304:15,482,710A/G—likely benign
rs1415401104:15,482,737T/G—likely benign
rs68104614:15,482,809G/A—benign
rs5613940984:15,482,861G/T—likely benign

Showing 100 of 1,663 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.