WDR19
WD repeat domain 19
Summary
The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015]
Known Variants936 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs150860929 | 4:39,184,163 | G/T | — | likely benign |
| rs60800612 | 4:39,184,169 | A/G | — | benign |
| rs1021076498 | 4:39,184,179 | T/C | — | uncertain significance |
| rs1415721879 | 4:39,184,186 | A/G | — | uncertain significance |
| rs201198839 | 4:39,184,188 | A/G | — | conflicting classifications of pathogenicity |
| rs953253544 | 4:39,184,192 | C/T | — | likely benign |
| rs2474985929 | 4:39,184,194 | T/A | — | likely benign |
| rs1725048393 | 4:39,184,199 | A/G | — | likely benign |
| rs771449038 | 4:39,184,203 | C/T | — | likely benign |
| rs28639548 | 4:39,187,150 | G/C | — | benign |
| rs562886871 | 4:39,187,339 | T/A | — | likely benign |
| rs1725441027 | 4:39,187,341 | T/G | — | uncertain significance |
| rs1725441648 | 4:39,187,346 | C/T | — | uncertain significance |
| rs922584346 | 4:39,187,347 | G/A | — | uncertain significance |
| rs2109740507 | 4:39,187,350 | T/C | — | uncertain significance |
| rs1237494778 | 4:39,187,353 | T/C | — | pathogenic |
| rs1285774012 | 4:39,187,357 | A/C | — | likely benign |
| rs387906982 | 4:39,187,359 | T/C | missense variant | pathogenic |
| rs531575276 | 4:39,187,381 | C/T | — | likely benign |
| rs865806299 | 4:39,187,382 | G/A | — | uncertain significance |
| rs770324810 | 4:39,187,392 | A/G | — | uncertain significance |
| rs1247231925 | 4:39,187,395 | T/G | — | uncertain significance |
| rs2474999097 | 4:39,187,398 | C/T | — | uncertain significance |
| rs2109740775 | 4:39,187,404 | A/C | — | uncertain significance |
| rs2474999240 | 4:39,187,412 | T/C | — | uncertain significance |
| rs1389886639 | 4:39,187,414 | A/G | — | likely benign |
| rs2109740825 | 4:39,187,416 | G/C | — | uncertain significance |
| rs1428236221 | 4:39,187,417 | A/G | — | likely benign |
| rs1351039516 | 4:39,187,420 | C/T | — | likely benign |
| rs924561850 | 4:39,187,421 | T/C | — | uncertain significance |
| rs2474999448 | 4:39,187,442 | G/T | — | uncertain significance |
| rs746441289 | 4:39,187,447 | C/T | — | likely benign |
| rs77963159 | 4:39,187,451 | G/T | — | likely benign |
| rs6839511 | 4:39,187,522 | G/T | — | benign |
| rs2475004542 | 4:39,188,143 | T/A | — | likely benign |
| rs556356193 | 4:39,188,147 | G/C | — | likely benign |
| rs756899296 | 4:39,188,148 | A/C | — | likely benign |
| rs781578023 | 4:39,188,166 | T/G | — | uncertain significance |
| rs1577822861 | 4:39,188,168 | T/G | — | pathogenic |
| rs770312522 | 4:39,188,188 | G/A | — | uncertain significance |
| rs749387746 | 4:39,188,201 | A/G | — | likely benign |
| rs2109743773 | 4:39,188,213 | T/A | — | likely benign |
| rs776617179 | 4:39,188,236 | A/G | — | conflicting classifications of pathogenicity |
| rs2475017414 | 4:39,191,261 | T/C | — | likely benign |
| rs1277161504 | 4:39,191,270 | T/A | — | likely benign |
| rs1483597668 | 4:39,191,282 | T/C | — | uncertain significance |
| rs2109250538 | 4:39,191,297 | G/C | — | uncertain significance |
| rs780621466 | 4:39,191,308 | G/A | — | uncertain significance |
| rs749815295 | 4:39,191,309 | A/T | — | conflicting classifications of pathogenicity |
| rs778896318 | 4:39,191,311 | A/G | — | uncertain significance |
| rs786204852 | 4:39,191,314 | T/A | missense variant | pathogenic |
| rs748216356 | 4:39,191,334 | A/C | — | uncertain significance |
| rs772445156 | 4:39,191,339 | T/C | — | likely benign |
| rs200354828 | 4:39,191,344 | G/A | — | uncertain significance |
| rs1232301082 | 4:39,191,345 | C/A | — | pathogenic |
| rs1577832495 | 4:39,191,354 | T/C | — | likely benign |
| rs1209880327 | 4:39,191,363 | C/A | — | likely benign |
| rs764071755 | 4:39,191,368 | C/A | — | uncertain significance |
| rs761275061 | 4:39,191,380 | G/A | — | uncertain significance |
| rs1725957452 | 4:39,191,381 | C/T | — | likely benign |
| rs926405916 | 4:39,191,386 | T/G | — | pathogenic |
| rs1725959489 | 4:39,191,388 | G/C | — | uncertain significance |
| rs2475018460 | 4:39,191,393 | T/C | — | likely benign |
| rs374891297 | 4:39,191,399 | G/A | — | uncertain significance |
| rs766718240 | 4:39,191,401 | G/A | — | uncertain significance |
| rs1322796832 | 4:39,191,421 | T/G | — | likely benign |
| rs28699614 | 4:39,191,516 | C/T | — | benign |
| rs6814134 | 4:39,191,627 | T/C | — | benign |
| rs3796524 | 4:39,195,987 | A/G | — | benign |
| rs28458249 | 4:39,196,127 | C/T | — | benign |
| rs1726508523 | 4:39,196,143 | A/G | — | no classification for the single variant |
| rs188871434 | 4:39,196,147 | A/G | — | likely benign |
| rs1459927780 | 4:39,196,155 | A/G | — | uncertain significance |
| rs1317389016 | 4:39,196,165 | G/T | — | uncertain significance |
| rs1381726098 | 4:39,196,175 | C/A | — | uncertain significance |
| rs766029437 | 4:39,196,199 | G/A | — | uncertain significance |
| rs2109264662 | 4:39,196,201 | A/G | — | uncertain significance |
| rs1726518430 | 4:39,196,205 | T/G | — | uncertain significance |
| rs755327576 | 4:39,196,206 | C/A | — | uncertain significance |
| rs376471437 | 4:39,196,216 | G/A | — | uncertain significance |
| rs2109264782 | 4:39,196,232 | A/T | — | uncertain significance |
| rs2109264795 | 4:39,196,244 | A/G | — | uncertain significance |
| rs568869081 | 4:39,196,246 | A/C | — | uncertain significance |
| rs2475037106 | 4:39,196,249 | C/T | — | uncertain significance |
| rs1255291158 | 4:39,196,257 | A/G | — | likely benign |
| rs778039192 | 4:39,196,261 | C/T | — | pathogenic |
| rs747065633 | 4:39,196,262 | G/A | — | uncertain significance |
| rs1361187656 | 4:39,196,277 | T/C | — | uncertain significance |
| rs781438702 | 4:39,196,291 | C/T | — | likely benign |
| rs2109265002 | 4:39,196,293 | G/A | — | likely benign |
| rs1271377349 | 4:39,196,299 | A/G | — | likely benign |
| rs35702826 | 4:39,196,407 | C/T | — | benign |
| rs374400438 | 4:39,201,096 | A/G | splice region variant | pathogenic |
| rs763605734 | 4:39,201,101 | A/G | — | uncertain significance |
| rs377419343 | 4:39,201,117 | C/T | — | likely benign |
| rs1300821144 | 4:39,201,118 | A/T | — | uncertain significance |
| rs2475060179 | 4:39,201,128 | G/A | — | uncertain significance |
| rs183950055 | 4:39,201,129 | T/C | — | likely benign |
| rs1273811425 | 4:39,201,132 | G/A | — | pathogenic |
| rs781287532 | 4:39,201,147 | G/T | — | likely benign |
Showing 100 of 936 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.