PKHD1

PKHD1 ciliary IPT domain containing fibrocystin/polyductin

Summary

The protein encoded by this gene is predicted to have a single transmembrane (TM)-spanning domain and multiple copies of an immunoglobulin-like plexin-transcription-factor domain. Alternative splicing results in two transcript variants encoding different isoforms. Other alternatively spliced transcripts have been described, but the full length sequences have not been determined. Several of these transcripts are predicted to encode truncated products which lack the TM and may be secreted. Mutations in this gene cause autosomal recessive polycystic kidney disease, also known as polycystic kidney and hepatic disease-1. [provided by RefSeq, Jul 2008]

Known Variants4,037 total

rsidPosition (GRCh37)AllelesClassClinVar
rs8860615916:51,480,359A/G—uncertain significance
rs7727321726:51,480,435C/T—uncertain significance
rs27841986:51,480,486G/T—benign
rs5446671126:51,480,500T/C—uncertain significance
rs5302519926:51,480,534A/T—uncertain significance
rs8860615926:51,480,556A/G—uncertain significance
rs8860615936:51,480,610G/T—uncertain significance
rs1491670966:51,480,708T/C—uncertain significance
rs8948578376:51,480,741C/T—uncertain significance
rs412737126:51,480,835T/A—likely benign
rs12771659626:51,480,849T/C—uncertain significance
rs27841996:51,480,853C/T—benign
rs27710126:51,480,854G/A—benign
rs1450402896:51,480,903G/A—uncertain significance
rs412737146:51,480,912A/T—uncertain significance
rs1468567696:51,480,957A/G—uncertain significance
rs8860615946:51,481,022T/G—uncertain significance
rs13114982216:51,481,163G/C—uncertain significance
rs770364296:51,481,213C/T—likely benign
rs1893022896:51,481,214G/T—uncertain significance
rs8860615956:51,481,299G/T—uncertain significance
rs14145046:51,481,315T/C—benign
rs17660923256:51,481,416G/A—uncertain significance
rs1459176816:51,481,436T/C—uncertain significance
rs767628276:51,481,548A/G—likely benign
rs27842006:51,481,671T/C—benign
rs5352266626:51,481,678C/T—likely benign
rs5695384146:51,481,793T/C—likely benign
rs796355716:51,481,797T/C—likely benign
rs1410744746:51,481,815C/A—likely benign
rs8860615976:51,481,848T/C—uncertain significance
rs8860615986:51,481,946C/T—uncertain significance
rs7639645156:51,482,090C/T—uncertain significance
rs8860615996:51,482,130G/A—uncertain significance
rs772273616:51,482,242C/T—likely benign
rs1162338096:51,482,282C/T—uncertain significance
rs5550420696:51,482,283G/A—uncertain significance
rs12886626276:51,482,287A/G—uncertain significance
rs8860616006:51,482,290A/C—uncertain significance
rs5463095516:51,482,320A/G—likely benign
rs69416336:51,482,354C/T—likely benign
rs7554943956:51,482,429A/T—uncertain significance
rs5732190876:51,482,498C/G—uncertain significance
rs8860616026:51,482,503T/C—uncertain significance
rs8860616036:51,482,544A/G—uncertain significance
rs8860616046:51,482,622C/T—uncertain significance
rs9179336766:51,482,635C/T—uncertain significance
rs8860616056:51,482,662C/T—uncertain significance
rs5488891126:51,482,725T/C—uncertain significance
rs1811205416:51,482,749G/A—uncertain significance
rs3764145516:51,482,796C/A—uncertain significance
rs9603043476:51,482,852C/T—uncertain significance
rs1859621296:51,482,856C/T—uncertain significance
rs412737166:51,482,874G/A—uncertain significance
rs9260386076:51,482,878T/C—uncertain significance
rs5582813796:51,482,945C/A—uncertain significance
rs5440511836:51,482,961A/T—uncertain significance
rs9745892806:51,483,057C/T—uncertain significance
rs8860616066:51,483,099T/C—uncertain significance
rs8860616076:51,483,119A/C—uncertain significance
rs412737186:51,483,243G/T—likely benign
rs412737206:51,483,275T/G—uncertain significance
rs27842016:51,483,505A/G—benign
rs5707603066:51,483,571G/A—uncertain significance
rs1473724256:51,483,647A/C—uncertain significance
rs7516494236:51,483,659T/C—uncertain significance
rs7643521656:51,483,852C/T—uncertain significance
rs3696237706:51,483,878A/G—uncertain significance
rs13479115336:51,483,879T/A—uncertain significance
rs25329085246:51,483,882C/T—likely benign
rs14142841946:51,483,888C/T—likely benign
rs14069248776:51,483,891C/T—conflicting classifications of pathogenicity
rs17662865156:51,483,896T/G—uncertain significance
rs7509885216:51,483,903C/T—conflicting classifications of pathogenicity
rs7588712836:51,483,904G/A—uncertain significance
rs1470519006:51,483,906G/A—conflicting classifications of pathogenicity
rs13093282776:51,483,909T/C—likely benign
rs21502385416:51,483,912T/C—likely benign
rs21502385826:51,483,915A/G—likely benign
rs7557692776:51,483,916T/C—uncertain significance
rs25329099076:51,483,921G/A—likely benign
rs21502386366:51,483,924G/A—likely benign
rs17662900256:51,483,930C/T—likely benign
rs17662908976:51,483,936G/A—likely benign
rs7571251196:51,483,939C/T—likely benign
rs7785450686:51,483,941C/T—uncertain significance
rs7458888246:51,483,942G/T—uncertain significance
rs11867244576:51,483,945G/A—likely benign
rs21502388996:51,483,948G/A—likely benign
rs5289073956:51,483,949G/A—uncertain significance
rs15619674076:51,483,957C/T—conflicting classifications of pathogenicity
rs93819946:51,483,961C/T—benign
rs2018125426:51,483,962G/A—uncertain significance
rs17662967966:51,483,963G/A—likely benign
rs7734435536:51,483,969C/A—likely benign
rs13340830936:51,483,974A/G—likely benign
rs21502391856:51,483,975G/A—likely benign
rs1443993876:51,483,984T/G—uncertain significance
rs15541632806:51,483,986G/A—uncertain significance
rs12687946066:51,483,987C/T—likely benign

Showing 100 of 4,037 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.