SBDS
SBDS ribosome maturation factor
Summary
This gene encodes a highly conserved protein that plays an essential role in ribosome biogenesis. The encoded protein interacts with elongation factor-like GTPase 1 to disassociate eukaryotic initiation factor 6 from the late cytoplasmic pre-60S ribosomal subunit allowing assembly of the 80S subunit. Mutations within this gene are associated with the autosomal recessive disorder Shwachman-Bodian-Diamond syndrome. This gene has a closely linked pseudogene that is distally located. [provided by RefSeq, Jan 2017]
Known Variants90 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs115854899 | 7:66,453,289 | C/T | — | benign |
| rs188752805 | 7:66,453,375 | C/T | — | uncertain significance |
| rs377761960 | 7:66,453,392 | T/C | — | uncertain significance |
| rs146166884 | 7:66,453,400 | G/A | — | likely benign |
| rs762648535 | 7:66,453,416 | C/A | — | uncertain significance |
| rs543458458 | 7:66,453,440 | A/G | — | uncertain significance |
| rs755853314 | 7:66,453,445 | C/T | — | likely benign |
| rs371133001 | 7:66,453,447 | C/A | — | likely pathogenic |
| rs757497272 | 7:66,453,458 | C/T | — | conflicting classifications of pathogenicity |
| rs113993998 | 7:66,453,459 | G/A | stop gained | pathogenic |
| rs73151675 | 7:66,453,460 | G/A | — | benign |
| rs79344818 | 7:66,453,476 | A/G | — | uncertain significance |
| rs2129231218 | 7:66,453,482 | C/T | — | likely pathogenic |
| rs113993997 | 7:66,456,123 | C/T | splice region variant | pathogenic |
| rs2536926049 | 7:66,456,135 | G/A | — | pathogenic |
| rs1488948286 | 7:66,456,169 | C/T | — | likely benign |
| rs745485178 | 7:66,456,207 | T/C | — | uncertain significance |
| rs544699994 | 7:66,456,224 | C/T | — | uncertain significance |
| rs774976459 | 7:66,456,225 | G/A | missense variant | pathogenic |
| rs2536926182 | 7:66,456,236 | T/C | — | uncertain significance |
| rs113993996 | 7:66,456,243 | G/A | missense variant | pathogenic |
| rs1226498367 | 7:66,456,250 | C/G | — | uncertain significance |
| rs1387962158 | 7:66,456,270 | G/A | — | likely pathogenic |
| rs1792969582 | 7:66,456,289 | C/T | — | pathogenic |
| rs564326432 | 7:66,458,008 | A/T | — | benign |
| rs142213835 | 7:66,458,112 | T/C | — | benign |
| rs13311709 | 7:66,458,220 | T/C | — | uncertain significance |
| rs2536928414 | 7:66,458,232 | A/G | — | uncertain significance |
| rs146780418 | 7:66,458,234 | C/T | — | likely benign |
| rs1376011266 | 7:66,458,235 | G/A | — | likely pathogenic |
| rs201070132 | 7:66,458,275 | C/T | missense variant | pathogenic |
| rs766637596 | 7:66,458,276 | G/A | — | likely benign |
| rs535755807 | 7:66,458,277 | G/C | — | uncertain significance |
| rs113993995 | 7:66,458,286 | C/G | missense variant | not provided |
| rs189441106 | 7:66,458,306 | A/G | — | likely benign |
| rs764577561 | 7:66,458,312 | G/C | — | uncertain significance |
| rs758052005 | 7:66,458,318 | C/T | — | likely benign |
| rs367957034 | 7:66,458,330 | A/G | — | likely benign |
| rs2129232269 | 7:66,458,337 | C/G | — | uncertain significance |
| rs773059473 | 7:66,458,350 | C/T | — | uncertain significance |
| rs1197945757 | 7:66,458,389 | C/G | — | uncertain significance |
| rs767695678 | 7:66,458,397 | G/C | — | uncertain significance |
| rs1554341363 | 7:66,458,403 | A/C | — | uncertain significance |
| rs2536928737 | 7:66,458,406 | T/G | — | likely pathogenic |
| rs11763269 | 7:66,459,145 | A/C | — | benign |
| rs536015496 | 7:66,459,151 | A/G | — | likely benign |
| rs186000847 | 7:66,459,180 | T/C | — | benign |
| rs1341893596 | 7:66,459,193 | A/G | — | uncertain significance |
| rs113993993 | 7:66,459,197 | A/G | splice region variant | pathogenic |
| rs113993992 | 7:66,459,198 | C/G | — | pathogenic |
| rs1473875401 | 7:66,459,235 | C/A | — | likely benign |
| rs1458246433 | 7:66,459,240 | T/G | — | uncertain significance |
| rs1061695 | 7:66,459,256 | T/C | — | benign |
| rs1554341499 | 7:66,459,258 | T/C | — | uncertain significance |
| rs120074160 | 7:66,459,273 | T/A | stop gained | pathogenic |
| rs200346194 | 7:66,459,274 | A/G | — | likely benign |
| rs747222022 | 7:66,459,284 | A/G | — | uncertain significance |
| rs1584437592 | 7:66,459,290 | A/G | — | likely pathogenic |
| rs369175778 | 7:66,459,293 | G/C | — | likely pathogenic |
| rs140297326 | 7:66,459,297 | G/A | — | uncertain significance |
| rs113993989 | 7:66,459,316 | G/A | — | benign |
| rs1554341516 | 7:66,459,326 | T/C | — | uncertain significance |
| rs775057252 | 7:66,459,330 | T/G | — | likely pathogenic |
| rs760364037 | 7:66,459,331 | T/C | — | conflicting classifications of pathogenicity |
| rs62466589 | 7:66,459,399 | T/C | — | benign |
| rs566212459 | 7:66,459,404 | T/C | — | benign |
| rs2129232531 | 7:66,459,408 | A/G | — | benign |
| rs111331532 | 7:66,459,415 | T/C | — | benign |
| rs368334049 | 7:66,459,488 | A/C | — | benign |
| rs113607071 | 7:66,459,498 | C/T | — | benign |
| rs71563147 | 7:66,459,513 | C/T | — | benign |
| rs111466310 | 7:66,459,518 | T/G | — | benign |
| rs7778881 | 7:66,460,011 | T/C | — | benign |
| rs60712404 | 7:66,460,197 | A/G | — | benign |
| rs2536932315 | 7:66,460,274 | C/G | — | uncertain significance |
| rs2536932319 | 7:66,460,276 | C/T | — | likely pathogenic |
| rs147652512 | 7:66,460,278 | C/A | — | conflicting classifications of pathogenicity |
| rs1009037678 | 7:66,460,297 | G/A | — | likely benign |
| rs548436732 | 7:66,460,298 | A/G | — | uncertain significance |
| rs1793080553 | 7:66,460,304 | T/A | — | likely pathogenic |
| rs373730800 | 7:66,460,307 | T/C | missense variant | pathogenic |
| rs1131691842 | 7:66,460,310 | T/C | — | likely pathogenic |
| rs749830607 | 7:66,460,335 | C/T | — | uncertain significance |
| rs1584438908 | 7:66,460,344 | T/A | — | likely pathogenic |
| rs766277488 | 7:66,460,364 | T/C | missense variant | pathogenic |
| rs751329484 | 7:66,460,365 | T/A | — | uncertain significance |
| rs1215736547 | 7:66,460,367 | G/A | — | uncertain significance |
| rs145800188 | 7:66,460,369 | T/C | — | likely benign |
| rs28942099 | 7:66,460,381 | G/T | missense variant | uncertain significance |
| rs182989808 | 7:66,460,420 | A/T | — | benign |
Gene information from NCBI Gene. Variant classifications from ClinVar.