RP1L1

RP1 like 1

Summary

This gene encodes a member of the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, and two C-terminal large repetitive regions, both of which contain a high percentage of glutamine and glutamic acid residues. This protein is a retinal-specific protein. Its exact length varies among individuals due to the presence of a 16aa repeat in the first C-terminal repetitive region. The 16aa repeat is encoded by the highly polymorphic 48-bp repeat, and 1-6 copies of the 16aa repeat have been identified in normal individuals. The current reference sequence shown here has a single copy of the 16aa repeat. This protein and the RP1 protein, another retinal-specific protein, play essential and synergistic roles in affecting photosensitivity and outer segment morphogenesis of rod photoreceptors. Mutations in this gene cause occult macular dystrophy (OMD). [provided by RefSeq, Sep 2010]

Known Variants1,123 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1818657468:10,463,892C/G—benign
rs8860625728:10,463,910C/T—uncertain significance
rs78169908:10,463,944C/A—benign
rs5304494578:10,463,961A/T—benign
rs17977034968:10,463,964T/G—uncertain significance
rs17977043188:10,464,038G/A—uncertain significance
rs793531668:10,464,049G/C—benign
rs583098578:10,464,070A/C—benign
rs1456012988:10,464,073C/T—benign
rs601966278:10,464,075A/C—benign
rs1465424918:10,464,098A/G—uncertain significance
rs9434091508:10,464,114G/A—uncertain significance
rs5571988958:10,464,139G/A—benign
rs5674941488:10,464,140C/A—uncertain significance
rs9031353738:10,464,149C/T—uncertain significance
rs125420718:10,464,161G/A—benign
rs125471928:10,464,179C/G—benign
rs5446427968:10,464,205C/T—benign
rs125420758:10,464,206G/A—benign
rs17977073128:10,464,214G/C—uncertain significance
rs5518885478:10,464,283C/G—uncertain significance
rs8860625738:10,464,306G/T—uncertain significance
rs125421048:10,464,307G/A—benign
rs3745333278:10,464,367G/C—benign
rs7634615018:10,464,404T/C—uncertain significance
rs1437627298:10,464,405C/G—uncertain significance
rs7678346348:10,464,417G/C—uncertain significance
rs3676919588:10,464,420A/T—uncertain significance
rs7788510828:10,464,449C/T—uncertain significance
rs3707830498:10,464,457G/T—uncertain significance
rs7773977918:10,464,459G/T—uncertain significance
rs7761567118:10,464,464C/T—uncertain significance
rs1125207798:10,464,465G/T—likely benign
rs11874153438:10,464,468A/T—uncertain significance
rs5542284908:10,464,476G/A—uncertain significance
rs3718147458:10,464,482G/C—uncertain significance
rs2003304778:10,464,511G/A—likely benign
rs3687426628:10,464,529C/T—uncertain significance
rs24862800528:10,464,533A/C—uncertain significance
rs7711555868:10,464,541G/A—uncertain significance
rs7667680128:10,464,546C/G—uncertain significance
rs2022130148:10,464,561A/G—likely benign
rs7808810278:10,464,583C/G—uncertain significance
rs7488319308:10,464,598T/C—uncertain significance
rs1170076608:10,464,604C/T—benign
rs5334789718:10,464,615C/T—likely benign
rs1473342568:10,464,616G/A—likely benign
rs12585795758:10,464,620A/G—likely benign
rs7755065118:10,464,629C/G—uncertain significance
rs3776466788:10,464,650G/A—uncertain significance
rs1910450808:10,464,654A/G—likely benign
rs7493542518:10,464,676T/G—uncertain significance
rs2004030498:10,464,692A/T—benign
rs1996318258:10,464,706G/C—conflicting classifications of pathogenicity
rs7802479158:10,464,730C/A—uncertain significance
rs9588899568:10,464,752C/G—uncertain significance
rs556424488:10,464,755T/C—benign
rs11989996728:10,464,775G/T—uncertain significance
rs7481568968:10,464,782T/C—uncertain significance
rs746383968:10,464,792G/A—benign
rs24862808218:10,464,793A/C—uncertain significance
rs10305761628:10,464,794C/T—uncertain significance
rs1832328808:10,464,796G/C—benign
rs12893752378:10,464,832T/A—uncertain significance
rs7541236628:10,464,855C/T—likely benign
rs7709602618:10,464,875T/A—uncertain significance
rs9913303478:10,464,879T/A—uncertain significance
rs563825138:10,464,885C/T—benign
rs800000748:10,464,890C/G—benign
rs13829333418:10,464,910G/T—uncertain significance
rs5736174508:10,464,919G/A—conflicting classifications of pathogenicity
rs13096821168:10,464,920T/C—uncertain significance
rs7809866918:10,464,926C/T—uncertain significance
rs749684398:10,464,934G/A—benign
rs1878505258:10,464,964G/A—benign
rs12552327348:10,464,976C/A—uncertain significance
rs11813879368:10,464,982A/G—uncertain significance
rs3756836078:10,464,984C/G—uncertain significance
rs13437571808:10,464,990T/C—likely benign
rs2005889418:10,464,997T/G—conflicting classifications of pathogenicity
rs8860625748:10,465,005T/A—conflicting classifications of pathogenicity
rs3738973898:10,465,006G/A—uncertain significance
rs1929901378:10,465,008C/T—likely benign
rs8860625758:10,465,011T/C—conflicting classifications of pathogenicity
rs757979248:10,465,012A/G—benign
rs7676597308:10,465,021A/G—uncertain significance
rs2004077508:10,465,022T/C—uncertain significance
rs2012461198:10,465,024C/G—uncertain significance
rs7808534518:10,465,042G/T—uncertain significance
rs7723189188:10,465,049C/G—uncertain significance
rs1998968028:10,465,056C/A—uncertain significance
rs12821547208:10,465,060G/T—likely benign
rs1835708178:10,465,063G/T—likely benign
rs7774754068:10,465,078A/C—pathogenic
rs11848106568:10,465,079A/T—uncertain significance
rs7807963538:10,465,086T/C—uncertain significance
rs43542688:10,465,097C/T—benign
rs12283335808:10,465,102G/A—uncertain significance
rs24862818768:10,465,103C/T—uncertain significance
rs7629518418:10,465,132G/A—uncertain significance

Showing 100 of 1,123 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.