WDPCP
WD repeat containing planar cell polarity effector
Summary
This gene encodes a cytoplasmic WD40 repeat protein. A similar gene in frogs encodes a planar cell polarity protein that plays a critical role in collective cell movement and ciliogenesis by mediating septin localization. Mutations in this gene are associated with Bardet-Biedl syndrome 15 and may also play a role in Meckel-Gruber syndrome. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
Known Variants540 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs944385657 | 2:63,348,507 | T/C | — | uncertain significance |
| rs184659805 | 2:63,348,559 | G/C | — | uncertain significance |
| rs1374866370 | 2:63,348,582 | C/T | — | uncertain significance |
| rs532612381 | 2:63,348,600 | G/C | — | uncertain significance |
| rs566014787 | 2:63,348,695 | G/A | — | uncertain significance |
| rs565212301 | 2:63,348,814 | C/T | — | likely benign |
| rs369149310 | 2:63,348,818 | T/C | — | benign |
| rs55807617 | 2:63,348,946 | C/T | — | benign |
| rs886056222 | 2:63,349,037 | T/G | — | uncertain significance |
| rs757608139 | 2:63,349,147 | C/T | — | likely benign |
| rs1669575177 | 2:63,349,152 | C/T | — | uncertain significance |
| rs374727283 | 2:63,349,166 | T/C | — | uncertain significance |
| rs1369325564 | 2:63,349,171 | A/G | — | likely benign |
| rs746369214 | 2:63,349,172 | G/T | — | uncertain significance |
| rs1669577990 | 2:63,349,190 | T/A | — | uncertain significance |
| rs1044455747 | 2:63,349,195 | C/A | — | likely benign |
| rs62180310 | 2:63,354,215 | T/C | — | — |
| rs72813408 | 2:63,363,242 | G/T | intron variant | — |
| rs62180314 | 2:63,373,133 | G/C | intron variant | — |
| rs2469140620 | 2:63,380,034 | G/T | — | likely benign |
| rs1303386488 | 2:63,380,041 | T/C | — | likely benign |
| rs1671980611 | 2:63,380,048 | C/T | — | uncertain significance |
| rs369786224 | 2:63,380,060 | C/T | — | uncertain significance |
| rs367690400 | 2:63,380,061 | G/A | — | likely benign |
| rs1370629959 | 2:63,380,066 | C/T | — | uncertain significance |
| rs1276531591 | 2:63,380,068 | C/G | — | uncertain significance |
| rs746225322 | 2:63,380,070 | C/G | — | conflicting classifications of pathogenicity |
| rs563554007 | 2:63,380,078 | C/T | — | uncertain significance |
| rs372727422 | 2:63,380,079 | G/A | — | likely benign |
| rs202221613 | 2:63,380,093 | A/G | — | conflicting classifications of pathogenicity |
| rs748390681 | 2:63,380,094 | T/C | — | uncertain significance |
| rs560073944 | 2:63,380,100 | C/A | — | likely benign |
| rs1042442806 | 2:63,380,616 | T/C | — | uncertain significance |
| rs748189167 | 2:63,380,639 | T/G | — | uncertain significance |
| rs772286167 | 2:63,380,641 | C/T | — | uncertain significance |
| rs769550847 | 2:63,380,646 | A/G | — | likely benign |
| rs374160452 | 2:63,380,660 | A/G | — | uncertain significance |
| rs1228276176 | 2:63,380,663 | C/T | — | uncertain significance |
| rs1672022341 | 2:63,380,665 | G/T | — | uncertain significance |
| rs200378703 | 2:63,380,675 | C/A | — | conflicting classifications of pathogenicity |
| rs1211600492 | 2:63,380,681 | C/G | — | uncertain significance |
| rs1195244149 | 2:63,380,682 | A/C | — | likely benign |
| rs1672024751 | 2:63,380,686 | T/G | — | uncertain significance |
| rs2469145265 | 2:63,380,687 | C/A | — | likely pathogenic |
| rs750072605 | 2:63,380,688 | A/G | — | likely benign |
| rs2469145337 | 2:63,380,699 | C/G | — | uncertain significance |
| rs2469145350 | 2:63,380,700 | A/G | — | likely benign |
| rs1672025805 | 2:63,380,701 | A/G | — | uncertain significance |
| rs1672026162 | 2:63,380,705 | T/C | — | uncertain significance |
| rs754322425 | 2:63,380,712 | G/A | — | uncertain significance |
| rs201051851 | 2:63,380,717 | A/G | — | likely benign |
| rs4671459 | 2:63,392,872 | A/C | intron variant | — |
| rs371652879 | 2:63,401,786 | T/G | — | likely benign |
| rs748159985 | 2:63,401,787 | C/T | — | likely benign |
| rs771461774 | 2:63,401,792 | C/A | — | likely benign |
| rs1673664289 | 2:63,401,797 | T/C | — | likely benign |
| rs1673664656 | 2:63,401,804 | C/A | — | pathogenic |
| rs2469249458 | 2:63,401,805 | C/A | — | uncertain significance |
| rs766136478 | 2:63,401,815 | A/G | — | conflicting classifications of pathogenicity |
| rs61734468 | 2:63,401,820 | T/C | — | likely benign |
| rs1325947677 | 2:63,401,832 | T/C | — | uncertain significance |
| rs765674630 | 2:63,401,836 | G/T | — | uncertain significance |
| rs753121252 | 2:63,401,852 | G/T | — | likely benign |
| rs2469250036 | 2:63,401,866 | G/A | — | uncertain significance |
| rs1242470451 | 2:63,401,873 | G/T | — | uncertain significance |
| rs757409957 | 2:63,401,880 | G/A | — | uncertain significance |
| rs781418589 | 2:63,401,882 | A/C | — | uncertain significance |
| rs1374797094 | 2:63,401,892 | T/A | — | uncertain significance |
| rs572858289 | 2:63,401,901 | G/A | — | conflicting classifications of pathogenicity |
| rs2469250451 | 2:63,401,912 | C/G | — | likely benign |
| rs772783589 | 2:63,401,913 | A/G | — | uncertain significance |
| rs746538391 | 2:63,401,915 | G/C | — | likely benign |
| rs373413042 | 2:63,401,932 | T/G | — | uncertain significance |
| rs759281211 | 2:63,401,938 | T/C | — | uncertain significance |
| rs1324158673 | 2:63,401,941 | C/A | — | uncertain significance |
| rs765502945 | 2:63,401,942 | C/T | — | likely benign |
| rs886056223 | 2:63,401,960 | C/T | — | uncertain significance |
| rs1673680183 | 2:63,401,961 | A/C | — | uncertain significance |
| rs763299856 | 2:63,401,969 | T/C | — | likely pathogenic |
| rs764595056 | 2:63,401,971 | T/C | — | uncertain significance |
| rs2421862 | 2:63,401,973 | G/A | — | benign |
| rs1198215632 | 2:63,401,981 | T/A | — | likely benign |
| rs201068492 | 2:63,401,985 | T/C | — | likely benign |
| rs746981898 | 2:63,456,966 | C/T | — | likely benign |
| rs992214 | 2:63,486,429 | C/T | — | benign |
| rs375424071 | 2:63,486,431 | T/C | — | likely benign |
| rs2104771665 | 2:63,486,439 | T/G | — | uncertain significance |
| rs760742250 | 2:63,486,469 | C/T | — | uncertain significance |
| rs2466714820 | 2:63,486,475 | C/T | — | uncertain significance |
| rs576368237 | 2:63,486,477 | C/A | — | uncertain significance |
| rs780498393 | 2:63,486,507 | G/A | — | uncertain significance |
| rs765912876 | 2:63,486,508 | C/T | — | uncertain significance |
| rs779790542 | 2:63,486,511 | A/T | — | uncertain significance |
| rs1277723268 | 2:63,486,530 | A/T | — | likely benign |
| rs1473946923 | 2:63,486,539 | A/C | — | uncertain significance |
| rs1681422238 | 2:63,486,540 | A/C | — | uncertain significance |
| rs2104772718 | 2:63,486,546 | T/A | — | likely pathogenic |
| rs772639117 | 2:63,486,547 | G/A | — | uncertain significance |
| rs1681422817 | 2:63,486,549 | G/C | — | likely benign |
| rs2104772785 | 2:63,486,555 | A/G | — | likely benign |
Showing 100 of 540 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.