Annotation Detail
Information
- Associated Genes
- ABCA1 ALAD ALDOB AMBP BAAT TNFSF8 SLC31A1 SLC31A2 CYLC2 LPAR1 FKTN GNG10 MUSK ORM1 ORM2 PPP3R2 PTPN3 RAD23B RGS3 TAL2 TGFBR1 TXN UGCG ZFP37 ZNF189 NR4A3 ELP1 TMEFF1 CTNNAL1 PRPF4 KLF4 ATP6V1G1 TNFSF15 PTBP3 SMC2 ACTL7B ACTL7A SEC61B PTGR1 ERP44 FKBP15 ECPAS SLC44A1 TMEM245 FRRS1L WHRN NIPSNAP3A OR2K2 INVS POLE3 MRPL50 EPB41L4B BSPRY TEX10 PLPPR1 ABITRAM STX17 TMEM38B NIPSNAP3B RNF20 SLC46A2 INIP ZNF462 SUSD1 SVEP1 AKNA HDHD3 FSD1L HSDL2 PGAP4 COL27A1 ALG2 MSANTD3 KIF12 WDR31 ZNF618 GRIN3A RNF183 OR13C5 OR13C8 OR13C3 OR13C4 OR13F1 ZNF483 SHOC1 KIAA1958 ZNF883 TMEM268 CDC26 TXNDC8 C9orf43 FAM225A OR13C9 OR13D1 LOC340512 CAVIN4 OR13C2 C9orf152 SNX30 MIR32 LINC00587 STX17-DT PALM2AKAP2 DNAJC25 DNAJC25-GNG10 MIR455 FAM225B HSDL2-AS1 TRR-TCG6-1 MIR3927 TEX48 MSANTD3-TMEFF1 MIR4668 NAMA LINC01505 LOC101928438 TMEM246-AS1 LINC01492 LINC03094 SMC2-DT LINC01509 MIR7702 MIR8081 LOC105376177 LOC105376194 LOC105376196 FKTN-AS1 LOC105376219 LINC02977 TEX53 LOC107987013 CT70 LOC110120726 LOC110121106 LOC111365146 LOC111365148 LOC111365191 LOC111365210 LOC111429628 LOC111556107 LOC111589207 LOC113839497 LOC113839498 LOC113839500 LOC113839501 LOC114022698 LOC114022699 LOC121331339 LOC121331340 LOC121331341 LOC121331342 LOC121331343 LOC121331344 LOC121331345 LOC121366020 LOC121366021 LOC121811714 LOC121811715 LOC121811716 LOC121811717 SNX30-DT LOC124310615 LOC124310616 LOC124310617 LOC124310618 LOC124310619 LOC124310620 LOC124310621 LOC124310622 LOC124310623 LOC124310624 LOC124310625 LOC124310626 LOC124310627 LOC124310628 LOC124310629 LOC124310630 LOC126860701 LOC126860702 LOC126860703 LOC126860704 LOC126860705 LOC126860706 LOC126860707 LOC126860708 LOC126860709 LOC126860710 LOC126860711 LOC126860712 LOC126860713 LOC126860714 LOC126860715 LOC126860716 LOC126860717 LOC126860718 LOC126860719 LOC126860720 LOC126860721 LOC126860722 LOC126860723 LOC126860724 LOC126860725 LOC126860726 LOC126860727 LOC126860728 LOC126860729 LOC126860730 LOC126860731 LOC126860732 LOC126860733 LOC126860734 LOC126860735 LOC126860736 LOC126860737 LOC126860738 LOC126860739 LOC128772340 LOC128822931 LOC129390101 LOC129390102 LOC129390103 LOC129390104 LOC129390105 LOC129390106 LOC129390107 LOC129390108 LOC129390109 LOC130002226 LOC130002227 LOC130002228 LOC130002229 LOC130002230 LOC130002231 LOC130002232 LOC130002233 LOC130002234 LOC130002235 LOC130002236 LOC130002237 LOC130002238 LOC130002239 LOC130002240 LOC130002241 LOC130002242 LOC130002243 LOC130002244 LOC130002245 LOC130002246 LOC130002247 LOC130002248 LOC130002249 LOC130002250 LOC130002251 LOC130002252 LOC130002253 LOC130002254 LOC130002255 LOC130002256 LOC130002257 LOC130002258 LOC130002259 LOC130002260 LOC130002261 LOC130002262 LOC130002263 LOC130002264 LOC130002265 LOC130002266 LOC130002267 LOC130002268 LOC130002269 LOC130002270 LOC130002271 LOC130002272 LOC130002273 LOC130002274 LOC130002275 LOC130002276 LOC130002277 LOC130002278 LOC130002279 LOC130002280 LOC130002281 LOC130002282 LOC130002283 LOC130002284 LOC130002285 LOC130002286 LOC130002287 LOC130002288 LOC130002289 LOC130002290 LOC130002291 LOC130002292 LOC130002293 LOC130002294 LOC130002295 LOC130002296 LOC130002297 LOC130002298 LOC130002299 LOC130002300 LOC130002301 LOC130002302 LOC130002303 LOC130002304 LOC130002305 LOC130002306 LOC130002307 LOC130002308 LOC130002309 LOC130002310 LOC130002311 LOC130002312 LOC130002313 LOC130002314 LOC130002315 LOC130002316 LOC130002317 LOC130002318 LOC130002319 LOC130002320 LOC130002321 LOC130002322 LOC130002323 LOC130002324 LOC130002325 LOC130002326 LOC130002327 LOC130002328 LOC130002329 LOC130002330 LOC130002331 LOC130002332 LOC130002333 LOC130002334 LOC130002335 LOC130002336 LOC130002337 LOC130002338 LOC130002339 LOC130002340 LOC130002341 LOC130002342 LOC130002343 LOC130002344 LOC130002345 LOC130002346 LOC130002347 LOC130002348 LOC130002349 LOC130002350 LOC130002351 LOC130002352 LOC130002353 LOC130002354 LOC130002355 LOC130002356 LOC130002357 LOC130002358 LOC130002359 LOC130002360 LOC130002361 LOC130002362 LOC130002363 LOC130002364 LOC130002365 LOC130002366 LOC130002367 LOC130002368 LOC130002369 LOC130002370 LOC130002371 LOC130002372 LOC130002373 LOC130002374 LOC130002375 LOC130002376 LOC130002377 LOC130002378 LOC130002379 LOC130002380 LOC130002381 LOC130002382 LOC130002383 LOC130002384 LOC130002385 LOC130002386 LOC130002387 LOC130002388 LOC130002389 LOC130002390 LOC130002391 LOC130002392 LOC130002393 LOC130002394 LOC130002395 LOC130002396 LOC130002397 LOC130002398 LOC130002399 LOC130002400 LOC130002401 LOC130002402 LOC130002403 LOC130002404 LOC130002405 LOC130002406 LOC130002407 LOC130002408 LOC130002409 LOC130002410 LOC130002411 LOC130002412 LOC130002413 LOC130002414 LOC130002415 LOC130002416 LOC130002417 LOC130002418 LOC130002419 LOC130002420 LOC130002421 LOC130002422 LOC130002423 LOC130002424 LOC130002425 LOC130002426 LOC130002427 LOC130002428 LOC130002429 LOC130002430 LOC130002431 LOC130002432 LOC130002433 LOC130002434 LOC130002435 LOC130002436 LOC130002437 LOC130002438 LOC130002439 LOC130002440 LOC130002441 LOC130002442 LOC130002443 LOC130002444 LOC130002445 LOC130002446 LOC130002447 LOC130002448 LOC130002449 LOC130002450 LOC130002451 LOC130002452 LOC130002453 LOC130002454 LOC130002455 LOC130002456 LOC130002457 LOC132089611 LOC132089612 LOC132089613 LOC132089614 LOC132089615 LOC132089616 LOC132089617 LOC132089618 LOC132089619 LOC132089620 LOC132089621 LOC132089622 LOC132089623 LOC132089624 LOC132089625 LOC132089626 LOC132089627 LOC132089628 LOC132089629 LOC132089630 LOC132089631 LOC132089632 LOC132089633 LOC132089634 LOC132089635 LOC132089636 LOC132089637 LOC132089638 LOC132089639 LOC132089640 LOC132089641 LOC132089642 LOC132089643 LOC132089644 LOC132089645 LOC132089646 LOC132089647 LOC132089648 LOC132089649 LOC132089650 LOC132089651 LOC132089652 LOC132089653 LOC132089654 LOC132089655 LOC132089656 LOC132089657 LOC132089658 LOC132089659 LOC132090795 LOC132090796 LOC132090797 LOC132090798 LOC132090799 LOC132090800 LOC132090801
- Associated Variants
-
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1
GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 9q22.33-33.1(chr9:99138048-115011033)x1 AND See cases
- ClinVar Allele ID
- 170902
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-08-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000148264
- Observed Origin Sample
- not provided
Drugs