Annotation Detail

Information
Associated Genes
A2M APOBEC1 ARHGDIB ART4 C1R C1S C3AR1 CCND2 CD4 CD9 CD27 CD69 CDKN1B CHD4 CREBL2 ATN1 PHC1 EMP1 ENO2 ETV6 FGF6 FOXM1 GAPDH GNB3 GPR19 GRIN2B GUCY2C KCNA1 KCNA5 KCNA6 KLRB1 KLRC1 KLRC2 KLRC3 KLRD1 LAG3 LRP6 LTBR M6PR MGP NDUFA9 NOP2 NTF3 OLR1 PDE6H PRB1 PRB3 PRB4 PRH1 PRH2 PTMS PTPN6 PEX5 PZP SCNN1A SLC2A3 VAMP1 TEAD4 TNFRSF1A TPI1 TULP3 VWF FGF23 MFAP5 USP5 MLF2 KLRC4 YBX3 DYRK4 GPRC5A CD163 GDF3 CLSTN3 NCAPD2 CLEC2B LPCAT3 KLRG1 LRRC23 EMG1 P3H3 AKAP3 RAD51AP1 TSPAN9 PRR4 PHB2 KLRK1 GABARAPL1 IFFO1 NECAP1 CLEC4E GALNT8 GPR162 CLEC2D COPS7A TAS2R9 TAS2R8 TAS2R7 TAS2R13 TAS2R10 TAS2R14 CLEC4A HEBP1 ING4 DDX47 MRPL51 CLEC1B CLEC1A C1RL KLRF1 WBP11 MANSC1 TAPBPL MAGOHB FAM90A1 PLEKHG6 STYK1 GPRC5D ATF7IP H2AJ FOXJ2 PRMT8 PARP11 ANO2 FERRY3 TIGAR LPAR5 AICDA RIMKLB FAM234B CLEC7A BCL2L14 PLBD1 NANOG DUSP16 APOLD1 GSG1 CDCA3 RHNO1 RBP5 ACRBP SPSB2 CRACR2A CLEC6A C12orf57 BORCS5 TMEM52B H4C16 ERP27 SLC2A14 A2ML1 A2M-AS1 C12orf60 CLEC12A CLECL1P CLEC4C ZNF384 PIANP LINC00612 EIF2S3B TAS2R43 TAS2R31 TAS2R46 TAS2R30 TAS2R19 TAS2R20 TAS2R50 C1RL-AS1 CD163L1 CLEC9A LINC01559 CLEC4D LINC01252 ACSM4 TAS2R42 DPPA3 NANOGNB CLEC2A CLEC12B LINC00937 CLEC12A-AS1 MIR141 MIR200C ZNF705A FAM66C LOC440084 SMCO3 LOH12CR2 LOC642846 PRB2 SCARNA12 SCARNA11 CD27-AS1 SCARNA10 MIR613 MIR614 LOC728715 LOC100128253 THCAT155 SMIM10L1 RNU7-1 MIR1244-3 KLRF2 LINC00987 LINC02470 GPRC5D-AS1 LOC100507560 KLRC4-KLRK1 PRH1-PRR4 A2ML1-AS1 TSPAN9-IT1 LINC02446 LINC02449 LOC101928030 KLRK1-AS1 LINC02366 PLBD1-AS1 LOC101928317 GAU1 LINC02443 LINC02417 LINC02367 LOC102724020 MIR1244-4 CCND2-AS1 LINC02827 PARP11-AS1 LOC105369617 LOC105369632 MIR200CHG LOC105369728 PRH1-TAS2R14 LOC106799839 LOC107436002 LOC107832852 LOC107832854 LOC108178986 LOC108178987 LOC108281141 LOC108942766 LOC109461484 SNORA120 LOC112136106 LOC112163543 LOC112163544 LOC112163545 LOC112163552 LOC112163620 LOC112163621 LOC112163622 LOC112163623 LOC112163625 LOC112163626 LOC112163630 LINC02598 LINC02617 LOC113939932 LOC113939935 LOC116268426 LOC116268427 LOC116268428 LOC116268429 LOC116268430 LOC116268431 LOC116268432 LOC116268433 LOC116268434 LOC116268435 GABARAPL1-AS1 LOC120807612 LOC121392956 LOC121403743 LOC121403744 LOC121466689 LOC121466690 LOC121466691 LOC121466692 LOC121832825 LOC121832826 LOC121832827 LINC02972 GUCY2C-AS1 LOC124625883 LOC124625884 LOC124625885 LOC124625886 LOC124625887 LOC124625889 LOC124625890 LOC124625892 LOC124625893 LOC124625895 LOC124625896 LOC124625897 LOC124625898 LOC124625899 LOC124625900 LOC124625901 LOC124625902 LOC124625903 LOC124625904 LOC124625905 LOC124625906 LOC124625907 LOC124625908 LOC124625909 LOC124625910 LOC124625911 LOC124625912 LOC124625913 LOC124906977 LOC126861420 LOC126861421 LOC126861422 LOC126861423 LOC126861424 LOC126861425 LOC126861426 LOC126861427 LOC126861428 LOC126861429 LOC126861430 LOC126861431 LOC126861432 LOC126861433 LOC126861434 LOC126861435 LOC126861436 LOC126861437 LOC126861438 LOC126861439 LOC126861440 LOC126861441 LOC126861442 LOC126861443 LOC126861444 LOC126861445 LOC126861446 LOC126861447 LOC126861448 LOC126861449 LOC126861450 LOC126861451 LOC126861452 LOC126861453 LOC126861454 LOC126861455 LOC126861456 LOC126861457 LOC126861458 LOC126861459 LOC126861460 LOC126861461 LOC126861462 LOC126861463 LOC126861464 LOC126861465 LOC126861466 LOC128732306 LOC128772374 LOC128772375 LOC128781585 LOC129390386 LOC129390387 LOC129390388 LOC129390389 LOC129390390 LOC129390391 LOC129390392 LOC129390393 LOC129390394 LOC129390395 LOC129390396 LOC129390397 LOC129390398 LOC129390399 LOC129390400 LOC129390401 LOC129390402 LOC129390403 LOC130007184 LOC130007185 LOC130007186 LOC130007187 LOC130007188 LOC130007189 LOC130007190 LOC130007191 LOC130007192 LOC130007193 LOC130007194 LOC130007195 LOC130007196 LOC130007197 LOC130007198 LOC130007199 LOC130007200 LOC130007201 LOC130007202 LOC130007203 LOC130007204 LOC130007205 LOC130007206 LOC130007207 LOC130007208 LOC130007209 LOC130007210 LOC130007211 LOC130007212 LOC130007213 LOC130007214 LOC130007215 LOC130007216 LOC130007217 LOC130007218 LOC130007219 LOC130007220 LOC130007221 LOC130007222 LOC130007223 LOC130007224 LOC130007225 LOC130007226 LOC130007227 LOC130007228 LOC130007229 LOC130007230 LOC130007231 LOC130007232 LOC130007233 LOC130007234 LOC130007235 LOC130007236 LOC130007237 LOC130007238 LOC130007239 LOC130007240 LOC130007241 LOC130007242 LOC130007243 LOC130007244 LOC130007245 LOC130007246 LOC130007247 LOC130007248 LOC130007249 LOC130007250 LOC130007251 LOC130007252 LOC130007253 LOC130007254 LOC130007255 LOC130007256 LOC130007257 LOC130007258 LOC130007259 LOC130007260 LOC130007261 LOC130007262 LOC130007263 LOC130007264 LOC130007265 LOC130007266 LOC130007267 LOC130007268 LOC130007269 LOC130007270 LOC130007271 LOC130007272 LOC130007273 LOC130007274 LOC130007275 LOC130007276 LOC130007277 LOC130007278 LOC130007279 LOC130007280 LOC130007281 LOC130007282 LOC130007283 LOC130007284 LOC130007285 LOC130007286 LOC130007287 LOC130007288 LOC130007289 LOC130007290 LOC130007291 LOC130007292 LOC130007293 LOC130007294 LOC130007295 LOC130007296 LOC130007297 LOC130007298 LOC130007299 LOC130007300 LOC130007301 LOC130007302 LOC130007303 LOC130007304 LOC130007305 LOC130007306 LOC130007307 LOC130007308 LOC130007309 LOC130007310 LOC130007311 LOC130007312 LOC130007313 LOC130007314 LOC130007315 LOC130007316 LOC130007317 LOC130007318 LOC130007319 LOC130007320 LOC130007321 LOC130007322 LOC130007323 LOC130007324 LOC130007325 LOC130007326 LOC130007327 LOC130007328 LOC130007329 LOC130007330 LOC130007331 LOC130007332 LOC130007333 LOC130007334 LOC130007335 LOC130007336 LOC130007337 LOC130007338 LOC130007339 LOC130007340 LOC130007341 LOC130007342 LOC130007343 LOC130007344 LOC130007345 LOC130007346 LOC130007347 LOC130007348 LOC130007349 LOC130007350 LOC130007351 LOC130007352 LOC130007353 LOC130007354 LOC130007355 LOC130007356 LOC130007357 LOC130007358 LOC130007359 LOC130007360 LOC130007361 LOC130007362 LOC130007363 LOC130007364 LOC130007365 LOC130007366 LOC130007367 LOC130007368 LOC130007369 LOC130007370 LOC130007371 LOC130007372 LOC130007373 LOC130007374 LOC130007375 LOC130007376 LOC130007377 LOC130007378 LOC130007379 LOC130007380 LOC130007381 LOC130007382 LOC130007383 LOC130007384 LOC130007385 LOC130007386 LOC130007387 LOC130007388 LOC130007389 LOC130007390 LOC130007391 LOC130007392 LOC130007393 LOC130007394 LOC130007395 LOC130007396 LOC130007397 LOC130007398 LOC130007399 LOC130007400 LOC130007401 LOC130007402 LOC130007403 LOC130007404 LOC130007405 LOC130007406 LOC130007407 LOC130007408 LOC130007409 LOC130007410 LOC130007411 LOC130007412 LOC130007413 LOC130007414 LOC130007415 LOC130007416 LOC130007417 LOC130007418 LOC130007419 LOC130007420 LOC130007421 LOC130007422 LOC130007423 LOC130007424 LOC130007425 LOC130007426 LOC130007427 LOC130007428 LOC130007429 LOC130007430 LOC130007431 LOC130007432 LOC130007433 LOC130007434 LOC130007435 LOC130007436 LOC130007437 LOC130007438 LOC130007439 LOC130007440 LOC130007441 LOC130007442 LOC130007443 LOC130007444 LOC130007445 LOC130007446 LOC130007447 LOC130007448 LOC130007449 LOC130007450 LOC130007451 LOC130007452 LOC130007453 LOC130007454 LOC130007455 LOC130007456 LOC130007457 LOC130007458 LOC130007459 LOC130007460 LOC130007461 LOC130007462 LOC130007463 LOC130007464 LOC130007465 LOC130007466 LOC130007467 LOC130007468 LOC130007469 LOC130007470 LOC130007471 LOC130007472 LOC130007473 LOC130007474 LOC130007475 LOC130007476 LOC130007477 LOC130007478 LOC130007479 LOC130007480 LOC130007481 LOC130007482 LOC130007483 LOC130007484 LOC130007485 LOC130007486 LOC130007487 LOC130007488 LOC130007489 LOC130007490 LOC130007491 LOC130007492 LOC130007493 LOC130007494 LOC130007495 LOC130007496 LOC130007497 LOC130007498 LOC130007499 LOC130007500 LOC130007501 LOC132090038 LOC132090065 LOC132090142
Associated Variants
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3
Source Database
ClinVar
Description
GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3 AND See cases
ClinVar Allele ID
158377
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2011-08-26
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000137694
Observed Origin Sample
not provided
Drugs