Annotation Detail

Information
Associated Genes
ESR1 FUCA2 GRM1 HIVEP2 IFNGR1 MAP3K5 NMBR OPRM1 PCMT1 PEX7 PLAGL1 TNFAIP3 UTRN VIP EPM2A PEX3 STX11 MAP7 LATS1 AKAP12 PHACTR2 BCLAF1 UST CITED2 RAB32 KATNA1 SCAF8 TAB2 SASH1 SYNE1 HEBP2 CCDC28A MTHFD1L IPCEF1 TIAM2 FBXO5 RGS17 PDE7B CLDN20 NOX3 TFB1M AIG1 VTA1 HECA IL20RA MTRF1L AHI1 RMND1 HYMAI ADGRG6 ARFGEF3 NHSL1 PLEKHG1 ZBTB2 ABRACL PBOV1 PERP ULBP3 ARMT1 ADGB CCDC170 MYCT1 ULBP2 ULBP1 PPP1R14C SF3B5 FBXO30 LRP11 LTV1 REPS1 PPIL4 MTFR2 GINM1 IL22RA2 ADAT2 STXBP5 RAET1E LOC153910 ZC2HC1B CNKSR3 RAET1L OLIG3 TXLNB SHPRH PHACTR2-AS1 SLC35D3 ZC3H12D ECT2L NUP43 RAET1G SUMO4 SAMD5 IYD NHSL1-AS1 PDE7B-AS1 LINC01625 LOC645967 STXBP5-AS1 GJE1 UST-AS1 WAKMAR2 AHI1-DT FILNC1 TRL-TAA1-1 TRQ-TTG4-1 NHEG1 MIR1273C MIR3145 MIR3668 SYNE1-AS1 LINC02539 CCDC28A-AS1 LINC02941 LINC01277 EPM2A-DT MIR4465 RAET1E-AS1 LOC101928373 MAP3K5-AS2 MAP3K5-AS1 ADGB-DT LINC03004 LOC102723690 LOC102723831 LOC103352541 LINC02524 SIMALR LINC02919 UST-AS2 TAB2-AS1 LOC105378052 LINC02840 LOC105378066 LUADT1 SNORA98 LOC107403234 LOC108169207 LOC108348020 LOC110121174 LOC110121225 SMIM28 LOC111413040 LOC111589214 LOC111828525 LOC111828526 LOC113146415 LOC113146417 LOC113146418 LOC113146419 LOC113146422 LOC113146423 LOC113146426 MIR12131 LOC114004398 LOC116183069 LOC116183070 LOC116183071 LOC116183072 LOC116183073 LOC116183074 LOC116183075 LOC116183076 LINC02865 LOC121132708 LOC121132709 LOC121132710 LOC121740667 LOC121740668 LOC121740669 LOC121740670 MAP7-AS1 LOC123864076 LOC123864077 LOC123864078 LOC123864079 LOC123864080 LOC123864081 LOC123864082 LOC123864083 LOC123864084 LOC123864085 LOC123864086 LOC123864087 LOC123864088 LOC123864089 LOC123864090 LOC123864091 LOC123864092 LOC123864093 LOC123864094 LOC123864095 LOC123864096 LOC123881324 LOC123881325 LOC123881326 LOC123881327 LOC123881328 LOC123881329 LOC123881330 LOC123881331 LOC123881332 LOC123881333 LOC123881334 LOC123881335 LOC123881336 LOC123881337 LOC123881338 LOC123881339 LOC123881340 LOC123881341 LOC124900217 LOC126859801 LOC126859802 LOC126859803 LOC126859804 LOC126859805 LOC126859806 LOC126859807 LOC126859808 LOC126859809 LOC126859810 LOC126859811 LOC126859812 LOC126859813 LOC126859814 LOC126859815 LOC126859816 LOC126859817 LOC126859818 LOC126859819 LOC126859820 LOC126859821 LOC126859822 LOC126859823 LOC126859824 LOC126859825 LOC126859826 LOC126859827 LOC126859828 LOC126859829 LOC126859830 LOC126859831 LOC126859832 LOC126859833 LOC126859834 LOC126859835 LOC126859836 LOC126859837 LOC126859838 LOC126859839 LOC126859840 LOC126859841 LOC126859842 LOC126859843 RAET1E-LRP11 LOC129389651 LOC129389652 LOC129389653 LOC129389654 LOC129389655 LOC129389656 LOC129389657 LOC129389658 LOC129389659 LOC129389660 LOC129389661 LOC129389662 LOC129389663 LOC129389664 LOC129389665 LOC129389666 LOC129389667 LOC129389668 LOC129389669 LOC129389670 LOC129389671 LOC129389672 LOC129389673 LOC129389674 LOC129389675 LOC129389676 LOC129389677 LOC129389678 LOC129389679 LOC129389680 LOC129389681 LOC129389682 LOC129389683 LOC129389684 LOC129389685 LOC129389686 LOC129389687 LOC129389688 LOC129389689 LOC129389690 LOC129389691 LOC129389692 LOC129389693 LOC129389694 LOC129997223 LOC129997224 LOC129997225 LOC129997226 LOC129997227 LOC129997228 LOC129997229 LOC129997230 LOC129997231 LOC129997232 LOC129997233 LOC129997234 LOC129997235 LOC129997236 LOC129997237 LOC129997238 LOC129997239 LOC129997240 LOC129997241 LOC129997242 LOC129997243 LOC129997244 LOC129997245 LOC129997246 LOC129997247 LOC129997248 LOC129997249 LOC129997250 LOC129997251 LOC129997252 LOC129997253 LOC129997254 LOC129997255 LOC129997256 LOC129997257 LOC129997258 LOC129997259 LOC129997260 LOC129997261 LOC129997262 LOC129997263 LOC129997264 LOC129997265 LOC129997266 LOC129997267 LOC129997268 LOC129997269 LOC129997270 LOC129997271 LOC129997272 LOC129997273 LOC129997274 LOC129997275 LOC129997276 LOC129997277 LOC129997278 LOC129997279 LOC129997280 LOC129997281 LOC129997282 LOC129997283 LOC129997284 LOC129997285 LOC129997286 LOC129997287 LOC129997288 LOC129997289 LOC129997290 LOC129997291 LOC129997292 LOC129997293 LOC129997294 LOC129997295 LOC129997296 LOC129997297 LOC129997298 LOC129997299 LOC129997300 LOC129997301 LOC129997302 LOC129997303 LOC129997304 LOC129997305 LOC129997306 LOC129997307 LOC129997308 LOC129997309 LOC129997310 LOC129997311 LOC129997312 LOC129997313 LOC129997314 LOC129997315 LOC129997316 LOC129997317 LOC129997318 LOC129997319 LOC129997320 LOC129997321 LOC129997322 LOC129997323 LOC129997324 LOC129997325 LOC129997326 LOC129997327 LOC129997328 LOC129997329 LOC129997330 LOC129997331 LOC129997332 LOC129997333 LOC129997334 LOC129997335 LOC129997336 LOC129997337 LOC129997338 LOC129997339 LOC129997340 LOC129997341 LOC129997342 LOC129997343 LOC129997344 LOC129997345 LOC129997346 LOC129997347 LOC129997348 LOC129997349 LOC129997350 LOC129997351 LOC129997352 LOC129997353 LOC129997354 LOC129997355 LOC129997356 LOC129997357 LOC129997358 LOC129997359 LOC129997360 LOC129997361 LOC129997362 LOC129997363 LOC129997364 LOC129997365 LOC129997366 LOC129997367 LOC129997368 LOC129997369 LOC129997370 LOC129997371 LOC129997372 LOC129997373 LOC129997374 LOC129997375 LOC129997376 LOC129997377 LOC129997378 LOC129997379 LOC129997380 LOC129997381 LOC129997382 LOC129997383 LOC129997384 LOC129997385 LOC129997386 LOC129997387 LOC129997388 LOC129997389 LOC129997390 LOC129997391 LOC129997392 LOC129997393 LOC129997394 LOC129997395 LOC129997396 LOC129997397 LOC129997398 LOC129997399 LOC129997400 LOC129997401 LOC129997402 LOC129997403 LOC129997404 LOC129997405 LOC129997406 LOC129997407 LOC129997408 LOC129997409 LOC129997410 LOC129997411 LOC129997412 LOC129997413 LOC129997414 LOC129997415 LOC129997416 LOC129997417 LOC129997418 LOC129997419 LOC129997420 LOC129997421 LOC129997422 LOC129997423 LOC129997424 LOC129997425 LOC129997426 LOC129997427 LOC129997428 LOC129997429 LOC129997430 LOC129997431 LOC129997432 LOC129997433 LOC129997434 LOC129997435 LOC129997436 LOC129997437 LOC129997438 LOC129997439 LOC129997440 LOC129997441 LOC129997442 LOC129997443 LOC129997444 LOC129997445 LOC129997446 LOC129997447 LOC129997448 LOC129997449 LOC129997450 LOC129997451 LOC129997452 LOC129997453 LOC129997454 LOC129997455 LOC129997456 LOC129997457 LOC129997458 LOC129997459 LOC129997460 LOC129997461 LOC129997462 LOC129997463 LOC129997464 LOC129997465 LOC129997466 LOC129997467 LOC129997468 LOC129997469 LOC129997470 LOC129997471 LOC129997472 LOC129997473 LOC129997474 LOC129997475 LOC129997476 LOC129997477 LOC129997478 LOC129997479 LOC129997480 LOC129997481 LOC129997482 LOC129997483 LOC129997484 LOC129997485 LOC129997486 LOC129997487 LOC129997488 LOC129997489 LOC129997490 LOC129997491 LOC129997492 LOC129997493 LOC129997494 LOC129997495 LOC129997496 LOC129997497 LOC129997498 LOC129997499 LOC129997500 LOC129997501 LOC129997502 LOC129997503 LOC129997504 LOC129997505 LOC129997506 LOC129997507 LOC129997508 LOC129997509 LOC132089349 LOC132089350 LOC132089351 LOC132089352 LOC132089353 LOC132089354 LOC132089355 LOC132089356 LOC132089357 LOC132089358 LOC132089359 LOC132089360 LOC132089361 LOC132089362 LOC132089363 LOC132089364 LOC132089365 LOC132089366 LOC132089367 LOC132089368 LOC132089369 LOC132089370 LOC132089371 LOC132089372 LOC132089373 LOC132089374 LOC132089375 LOC132090769 LOC132090770 LOC132090771
Associated Variants
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3
Source Database
ClinVar
Description
GRCh38/hg38 6q23.3-25.3(chr6:135358150-155455117)x3 AND See cases
ClinVar Allele ID
157416
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2010-10-14
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000136826
Observed Origin Sample
not provided
Drugs