Annotation Detail

Information
Associated Genes
ADRA1D JAG1 AVP BFSP1 BMP2 ENTPD6 CDC25B CENPB CHGB CSNK2A1 CST1 CST2 CST3 CST4 CST5 FKBP1A GNRH2 FOXA2 IDH3B INSM1 ITPA NKX2-2 OXT PAX1 PCNA PCSK2 PDYN PLCB4 PRNP PTPRA PYGB RRBP1 SIGLEC1 SNAP25 SNRPB SNRPB2 SOX12 SSTR4 TCF15 TGM3 THBD ZNF133 MKKS ATRN CST7 CDS2 PSMF1 SNPH LZTS3 RASSF2 GINS1 SLC23A2 CST8 SIRPB1 SEC23B NOP56 RBCK1 POLR3F RBBP9 DSTN RNF24 XRN2 UBOX5 BTBD3 CD93 NINL PLCB1 PRND FLRT3 LAMP5 SPEF1 DNAAF9 CFAP61 ABHD12 ZNF337 RNU105B SNORD57 SNORD56 SDCBP2 SNX5 TMEM230 LINC00652 NXT1 VSX1 NAA20 CRNKL1 ANGPT4 ESF1 TRMT6 HAO1 RIN2 SMOX CRLS1 ADISSP DZANK1 SPTLC3 AP5S1 TMEM74B SIRPG FERMT1 KIF16B TASP1 KIZ NSFL1C TMX4 GPCPD1 CPXM1 OTOR APMAP PAK5 RALGAPA2 KAT14 SLC24A3 MAVS EBF4 TRIB3 OVOL2 FASTKD5 NAPB ANKEF1 GFRA4 GZF1 VPS16 PCED1A MRPS26 DDRGK1 NDUFAF5 ZNF343 SYNDIG1 NRSN2 PANK2 ADAM33 SEL1L2 DEFB126 FAM110A SLC4A11 MCM8 ACSS1 ZCCHC3 SCRT2 GGTLC1 MGME1 DTD1 SLC52A3 HSPA12B TMC2 TBC1D20 SIRPD C20orf141 PROKR2 SLX4IP CSTL1 CST9L CST9 C20orf96 MACROD2 SRXN1 LINC00261 BANF2 NANP MACROD2-IT1 DEFB127 SCP2D1 ISM1 CST11 DEFB129 SIRPA STK35 PRNT LINC00654 SHLD1 LRRN4 LINC00656 DEFB125 DEFB128 SIRPB2 LOC284788 LOC284798 FAM182A MIR663AHG LOC339593 RSPO4 TGM6 LINC03086 SMIM26 DEFB132 C20orf202 LINC01721 MIR103A2 LINC00851 LOC613266 RAD21L1 LOC643406 NKX2-4 SNORA51 SNORD17 SNORD86 SNORD110 MIR663A PDYN-AS1 LINC01433 LINC02871 LINC00687 FAM182B SNORD119 SCP2D1-AS1 SLC24A3-AS1 SNAP25-AS1 UBOX5-AS1 LOC100134868 LINC01432 LCDR TMEM239 MIR1292 MIR103B2 PCNA-AS1 PET117 MACROD2-AS1 MIR3192 LINC01723 ISM1-AS1 LINC03125 LINC01431 NRSN2-AS1 SDCBP2-AS1 LINC00658 FKBP1A-SDCBP2 PLCB1-IT1 LOC101926889 LOC101926935 LINC01733 SIRPG-AS1 LINC01730 LINC01729 MCM8-AS1 CASC20 LINC01428 LINC01751 LINC01706 LAMP5-AS1 PARAL1 LINC01752 LOC101929413 LINC01722 DTD1-AS1 CFAP61-AS1 KIZ-AS1 LINC01726 LINC01727 LINC01427 LNCNEF MIR6869 MIR6870 MIR8062 LOC102606466 LOC102724545 ZNF337-AS1 LOC105372493 LINC01713 TMX4-AS1 LOC105372524 ZNF133-AS1 LINC00237 LINC01747 WAKMAR1 LOC105372582 LOC106799846 LOC107457602 LOC108178991 LOC108178992 LOC108228200 LOC108228202 LOC109363676 LOC109504727 LOC110120914 LOC110120921 LOC110120949 LOC110121332 LOC110121338 LOC111240478 LOC111240479 LOC111365169 LOC111365189 LOC111465001 LOC112268271 LOC112694687 LOC112694688 LOC112694689 LOC112694690 LOC112694691 LOC112694692 LOC112694693 LOC112694694 LOC112694695 LOC112694696 LOC112694697 LOC112694698 LOC112694699 LOC112694712 LOC112694713 LOC112694729 LOC112694730 LOC112694731 LOC113939990 LOC113939991 LOC113939992 LOC114004355 LOC114827862 LOC116286198 LOC116286199 LOC116286200 LOC116286201 LOC116286202 LOC116286203 LOC121627890 LOC121627891 LOC121627892 LOC121627893 LOC121627894 LOC121627895 LOC121627896 LOC121627897 LOC121627898 LOC121627899 LOC121627900 LOC121627901 BTBD3-AS1 LOC121852995 LOC121852996 LOC121852997 LOC121852998 LOC121852999 LOC121853000 LOC121853001 IDH3B-DT LOC125384555 LOC125384556 LOC125384557 LOC125384558 LOC125384559 LOC125384560 LOC125384561 LOC125384562 LOC125384563 LOC125384564 LOC125384565 LOC125384566 LOC125384567 LOC125384568 LOC125384569 LOC125384570 LOC125384571 LOC125384572 LOC125384573 LOC125384574 LOC125384575 LOC125384576 LOC125384577 LOC125384578 LOC125384579 LOC125384580 LOC125384581 LOC125384582 LOC125384583 LOC125384584 LOC125384585 LOC125384586 LOC125384587 LOC125384588 LOC125384589 LOC125384590 LOC125384592 LOC125384593 LOC125384594 LOC125387241 LOC125387242 LOC125387243 LOC125387244 LOC125387245 LOC125387246 LOC125387247 LOC126862948 LOC126862949 LOC126862950 LOC126862951 LOC126862952 LOC126862953 LOC126862954 LOC126862955 LOC126862956 LOC126862957 LOC126862958 LOC126862959 LOC126862960 LOC126862961 LOC126862962 LOC126862963 LOC126862964 LOC126862965 LOC126862966 LOC126862967 LOC126862968 LOC126862969 LOC126862970 LOC126862971 LOC126862972 LOC126862973 LOC126862974 LOC126862975 LOC126862976 LOC126862977 LOC126862978 LOC126862979 LOC126862980 LOC126862981 LOC126862982 LOC126862983 LOC126862984 LOC126862985 LOC126862986 LOC126862987 LOC126862988 LOC126862989 LOC126862990 LOC126862991 LOC126862992 LOC126862993 LOC126862994 LOC126862995 LOC126862996 LOC126862997 LOC126862998 LOC126862999 LOC126863000 LOC126863001 LOC126863002 LOC126863003 LOC126863004 LOC126863005 LOC126863006 LOC126863007 LOC126863008 LOC126863009 LINC03083 LOC128706665 LOC128706666 LOC129391147 LOC129391148 LOC129391149 LOC129391150 LOC129391151 LOC129391152 LOC129391153 LOC129391154 LOC129391155 LOC129391156 LOC129391157 LOC129391158 LOC129391159 LOC129391160 LOC129391161 LOC129456123 LOC130065248 LOC130065249 LOC130065250 LOC130065251 LOC130065252 LOC130065253 LOC130065254 LOC130065255 LOC130065256 LOC130065257 LOC130065258 LOC130065259 LOC130065260 LOC130065261 LOC130065262 LOC130065263 LOC130065264 LOC130065265 LOC130065266 LOC130065267 LOC130065268 LOC130065269 LOC130065270 LOC130065271 LOC130065272 LOC130065273 LOC130065274 LOC130065275 LOC130065276 LOC130065277 LOC130065278 LOC130065279 LOC130065280 LOC130065281 LOC130065282 LOC130065283 LOC130065284 LOC130065285 LOC130065286 LOC130065287 LOC130065288 LOC130065289 LOC130065290 LOC130065291 LOC130065292 LOC130065293 LOC130065294 LOC130065295 LOC130065296 LOC130065297 LOC130065298 LOC130065299 LOC130065300 LOC130065301 LOC130065302 LOC130065303 LOC130065304 LOC130065305 LOC130065306 LOC130065307 LOC130065308 LOC130065309 LOC130065310 LOC130065311 LOC130065312 LOC130065313 LOC130065314 LOC130065315 LOC130065316 LOC130065317 LOC130065318 LOC130065319 LOC130065320 LOC130065321 LOC130065322 LOC130065323 LOC130065324 LOC130065325 LOC130065326 LOC130065327 LOC130065328 LOC130065329 LOC130065330 LOC130065331 LOC130065332 LOC130065333 LOC130065334 LOC130065335 LOC130065336 LOC130065337 LOC130065338 LOC130065339 LOC130065340 LOC130065341 LOC130065342 LOC130065343 LOC130065344 LOC130065345 LOC130065346 LOC130065347 LOC130065348 LOC130065349 LOC130065350 LOC130065351 LOC130065352 LOC130065353 LOC130065354 LOC130065355 LOC130065356 LOC130065357 LOC130065358 LOC130065359 LOC130065360 LOC130065361 LOC130065362 LOC130065363 LOC130065364 LOC130065365 LOC130065366 LOC130065367 LOC130065368 LOC130065369 LOC130065370 LOC130065371 LOC130065372 LOC130065373 LOC130065374 LOC130065375 LOC130065376 LOC130065377 LOC130065378 LOC130065379 LOC130065380 LOC130065381 LOC130065382 LOC130065383 LOC130065384 LOC130065385 LOC130065386 LOC130065387 LOC130065388 LOC130065389 LOC130065390 LOC130065391 LOC130065392 LOC130065393 LOC130065394 LOC130065395 LOC130065396 LOC130065397 LOC130065398 LOC130065399 LOC130065400 LOC130065401 LOC130065402 LOC130065403 LOC130065404 LOC130065405 LOC130065406 LOC130065407 LOC130065408 LOC130065409 LOC130065410 LOC130065411 LOC130065412 LOC130065413 LOC130065414 LOC130065415 LOC130065416 LOC130065417 LOC130065418 LOC130065419 LOC130065420 LOC130065421 LOC130065422 LOC130065423 LOC130065424 LOC130065425 LOC130065426 LOC130065427 LOC130065428 LOC130065429 LOC130065430 LOC130065431 LOC130065432 LOC130065433 LOC130065434 LOC130065435 LOC130065436 LOC130065437 LOC130065438 LOC130065439 LOC130065440 LOC130065441 LOC130065442 LOC130065443 LOC130065444 LOC130065445 LOC130065446 LOC130065447 LOC130065448 LOC130065449 LOC130065450 LOC130065451 LOC130065452 LOC130065453 LOC130065454 LOC130065455 LOC130065456 LOC130065457 LOC130065458 LOC130065459 LOC130065460 LOC130065461 LOC130065462 LOC130065463 LOC130065464 LOC130065465 LOC130065466 LOC130065467 LOC130065468 LOC130065469 LOC130065470 LOC130065471 LOC130065472 LOC130065473 LOC130065474 LOC130065475 LOC130065476 LOC130065477 LOC130065478 LOC130065479 LOC130065480 LOC130065481 LOC130065482 LOC130065483 LOC130065484 LOC130065485 LOC130065486 LOC130065487 LOC130065488 LOC130065489 LOC130065490 LOC130065491 LOC130065492 LOC130065493 LOC130065494 LOC130065495 LOC130065496 LOC130065497 LOC130065498 LOC130065499 LOC130065500 LOC130065501 LOC130065502 LOC130065503 LOC130065504 LOC130065505 LOC130065506 LOC130065507 LOC130065508 LOC130065509 LOC130065510 LOC130065511 LOC130065512 LOC130065513 LOC130065514 LOC130065515 LOC130065516 LOC130065517 LOC130065518 LOC130065519 LOC130065520 LOC130065521 LOC130065522 LOC130065523 LOC130065524 LOC130065525 LOC130065526 LOC130065527 LOC130065528 LOC130065529 LOC130065530 LOC130065531 LOC130065532 LOC130065533 LOC130065534 LOC130065535 LOC130065536 LOC130065537 LOC130065538 LOC130065539 LOC130065540 LOC130065541 LOC130065542 LOC130065543 LOC130065544 LOC130065545 LOC130065546 LOC130065547 LOC130065548 LOC130065549 LOC130065550 LOC130065551 LOC130065552 LOC130065553 LOC130065554 LOC130065555 LOC130065556 LOC130065557 LOC130065558 LOC130065559 LOC130065560 LOC130065561 LOC130065562 LOC130065563 LOC130065564 LOC130065565 LOC130065566 LOC130065567 LOC130065568 LOC130065569 LOC130065570 LOC130065571 LOC130065572 LOC130065573 LOC130065574 LOC130065575 LOC130065576 LOC130065577 LOC130065578 LOC130065579 LOC130065580 LOC130065581 LOC130065582 LOC130065583 LOC130065584 LOC130065585 LOC130065586 LOC130065587 LOC130065588 LOC130065589 LOC130065590 LOC130065591 LOC130065592 LOC130065593 LOC130065594 LOC130065595 LOC130065596 LOC130065597 LOC130065598 LOC130065599 LOC132090561 LOC132090562 LOC132090563 LOC132090564 LOC132090565 LOC132090566 LOC132090567 LOC132090568 LOC132090569 LOC132090570 LOC132090571 LOC132090572 LOC132090574 LOC132090575 LOC132090576 LOC132090910
Associated Variants
GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3
Source Database
ClinVar
Description
GRCh38/hg38 20p13-11.1(chr20:80927-26324843)x3 AND See cases
ClinVar Allele ID
163482
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2014-08-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000142017
Observed Origin Sample
not provided
Drugs