NPHP3
nephrocystin 3
Summary
This gene encodes a protein containing a coiled-coil (CC) domain, a tubulin-tyrosine ligase (TTL) domain, and a tetratrico peptide repeat (TPR) domain. The encoded protein interacts with nephrocystin, it is required for normal ciliary development, and it functions in renal tubular development. Mutations in this gene are associated with nephronophthisis type 3, and also with renal-hepatic-pancreatic dysplasia, and Meckel syndrome type 7. Naturally occurring read-through transcripts exist between this gene and the downstream ACAD11 (acyl-CoA dehydrogenase family, member 11) gene. [provided by RefSeq, Feb 2011]
Known Variants961 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs886057994 | 3:132,399,541 | A/G | — | uncertain significance |
| rs7632096 | 3:132,399,566 | T/C | — | uncertain significance |
| rs1939002888 | 3:132,399,570 | T/A | — | uncertain significance |
| rs183658380 | 3:132,399,578 | C/T | — | conflicting classifications of pathogenicity |
| rs576904017 | 3:132,399,633 | T/C | — | uncertain significance |
| rs886057995 | 3:132,399,656 | G/A | — | uncertain significance |
| rs1939005375 | 3:132,399,660 | T/C | — | uncertain significance |
| rs886057996 | 3:132,399,676 | A/C | — | uncertain significance |
| rs186828918 | 3:132,399,734 | A/G | — | conflicting classifications of pathogenicity |
| rs570076170 | 3:132,399,828 | G/A | — | conflicting classifications of pathogenicity |
| rs192360684 | 3:132,399,902 | G/T | — | uncertain significance |
| rs141464909 | 3:132,399,939 | C/T | — | conflicting classifications of pathogenicity |
| rs6774366 | 3:132,399,969 | C/T | — | likely benign |
| rs376015619 | 3:132,399,970 | G/A | — | uncertain significance |
| rs116338839 | 3:132,399,995 | C/T | — | conflicting classifications of pathogenicity |
| rs886057997 | 3:132,400,062 | G/A | — | uncertain significance |
| rs115127733 | 3:132,400,081 | G/C | — | likely benign |
| rs79224795 | 3:132,400,097 | G/A | — | benign |
| rs1156702698 | 3:132,400,128 | G/C | — | uncertain significance |
| rs3891704 | 3:132,400,235 | G/A | — | uncertain significance |
| rs539230132 | 3:132,400,317 | G/A | — | uncertain significance |
| rs992880401 | 3:132,400,403 | T/A | — | uncertain significance |
| rs11708200 | 3:132,400,488 | C/T | — | likely benign |
| rs753577987 | 3:132,400,523 | T/A | — | uncertain significance |
| rs1939035707 | 3:132,400,576 | A/C | — | uncertain significance |
| rs538987591 | 3:132,400,613 | A/G | — | uncertain significance |
| rs886058001 | 3:132,400,615 | A/C | — | uncertain significance |
| rs111995127 | 3:132,400,646 | C/T | — | uncertain significance |
| rs530016526 | 3:132,400,708 | T/C | — | uncertain significance |
| rs147332157 | 3:132,400,757 | C/T | — | likely benign |
| rs113364886 | 3:132,400,776 | A/G | — | conflicting classifications of pathogenicity |
| rs1350855452 | 3:132,400,788 | G/T | — | uncertain significance |
| rs75316802 | 3:132,400,806 | C/G | — | likely benign |
| rs754601686 | 3:132,400,811 | C/T | — | conflicting classifications of pathogenicity |
| rs778488977 | 3:132,400,812 | G/A | — | uncertain significance |
| rs781537576 | 3:132,400,833 | C/T | — | uncertain significance |
| rs35485382 | 3:132,400,834 | G/A | — | likely benign |
| rs114049311 | 3:132,400,835 | T/C | — | likely benign |
| rs373728120 | 3:132,400,840 | G/A | — | uncertain significance |
| rs749613349 | 3:132,400,843 | C/A | — | uncertain significance |
| rs769027723 | 3:132,400,846 | T/G | — | uncertain significance |
| rs774681590 | 3:132,400,849 | C/T | — | uncertain significance |
| rs190548695 | 3:132,400,851 | C/T | — | conflicting classifications of pathogenicity |
| rs772264171 | 3:132,400,855 | A/G | — | likely benign |
| rs1436695205 | 3:132,400,856 | G/A | — | likely benign |
| rs2530372158 | 3:132,400,863 | G/A | — | uncertain significance |
| rs766281273 | 3:132,400,872 | T/G | — | uncertain significance |
| rs759336230 | 3:132,400,881 | T/G | — | uncertain significance |
| rs1559998774 | 3:132,400,884 | A/G | — | uncertain significance |
| rs2530372256 | 3:132,400,889 | C/A | — | uncertain significance |
| rs2107960602 | 3:132,400,890 | C/T | — | uncertain significance |
| rs2530372299 | 3:132,400,901 | T/C | — | likely benign |
| rs1939044718 | 3:132,400,906 | C/T | — | uncertain significance |
| rs2530372321 | 3:132,400,909 | C/T | — | uncertain significance |
| rs757964370 | 3:132,400,914 | T/A | — | uncertain significance |
| rs1472447484 | 3:132,400,915 | C/G | — | uncertain significance |
| rs1939045407 | 3:132,400,927 | C/A | — | pathogenic |
| rs777264064 | 3:132,400,931 | A/G | — | likely benign |
| rs372263313 | 3:132,400,944 | A/G | — | likely benign |
| rs11925495 | 3:132,401,257 | A/G | — | benign |
| rs6792074 | 3:132,401,421 | G/A | — | benign |
| rs74504982 | 3:132,401,430 | A/G | — | benign |
| rs145708952 | 3:132,401,505 | G/A | — | benign |
| rs376029054 | 3:132,401,531 | T/C | — | likely benign |
| rs1559999088 | 3:132,401,538 | A/G | — | uncertain significance |
| rs2530374879 | 3:132,401,543 | T/A | — | uncertain significance |
| rs1459151671 | 3:132,401,546 | C/A | — | pathogenic |
| rs794727430 | 3:132,401,550 | A/G | — | uncertain significance |
| rs1221044746 | 3:132,401,552 | C/T | — | likely benign |
| rs150019603 | 3:132,401,554 | C/T | — | uncertain significance |
| rs755459669 | 3:132,401,559 | A/G | — | uncertain significance |
| rs1939063603 | 3:132,401,572 | T/C | — | uncertain significance |
| rs1489156590 | 3:132,401,574 | T/C | — | uncertain significance |
| rs748465701 | 3:132,401,583 | C/T | — | uncertain significance |
| rs758716466 | 3:132,401,584 | G/A | — | pathogenic |
| rs778016120 | 3:132,401,586 | G/T | — | uncertain significance |
| rs771022777 | 3:132,401,595 | C/T | — | uncertain significance |
| rs146054765 | 3:132,401,596 | G/A | — | conflicting classifications of pathogenicity |
| rs6794496 | 3:132,401,600 | C/T | — | benign |
| rs775281384 | 3:132,401,602 | G/C | — | likely pathogenic |
| rs143451766 | 3:132,401,603 | G/C | — | conflicting classifications of pathogenicity |
| rs1939065629 | 3:132,401,625 | G/T | — | uncertain significance |
| rs2530375232 | 3:132,401,633 | A/T | — | pathogenic |
| rs756330976 | 3:132,401,637 | A/G | — | uncertain significance |
| rs146759786 | 3:132,401,642 | C/T | — | conflicting classifications of pathogenicity |
| rs148864911 | 3:132,401,646 | G/A | — | uncertain significance |
| rs985289177 | 3:132,401,653 | C/T | — | uncertain significance |
| rs753143081 | 3:132,401,654 | G/A | — | likely benign |
| rs2107961440 | 3:132,401,661 | T/C | — | uncertain significance |
| rs2107961442 | 3:132,401,665 | T/C | — | uncertain significance |
| rs777908405 | 3:132,401,669 | A/T | — | uncertain significance |
| rs1939067062 | 3:132,401,671 | A/C | — | uncertain significance |
| rs2530375386 | 3:132,401,673 | A/G | — | likely benign |
| rs1939067140 | 3:132,401,675 | A/C | — | likely benign |
| rs2107961469 | 3:132,401,678 | G/T | — | likely benign |
| rs73220112 | 3:132,401,813 | G/C | — | benign |
| rs773940041 | 3:132,402,223 | G/A | — | likely benign |
| rs2530376842 | 3:132,402,229 | A/C | — | likely benign |
| rs772869810 | 3:132,402,231 | A/T | — | likely benign |
| rs1464247795 | 3:132,402,259 | A/G | — | uncertain significance |
Showing 100 of 961 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.