Annotation Detail
Information
- Associated Genes
- ATP2B1 BTG1 CSRP2 DCN EPYC DUSP6 KCNC2 LUM KITLG MYF5 MYF6 PPP1R12A NAP1L1 NTS PAWR SYT1 ALX1 EEA1 PPFIA2 GALNT4 LIN7A RASSF9 GLIPR1 KERA KRR1 PHLDA1 ZDHHC17 MGAT4C CCDC59 SLC6A15 ACSS3 BBS10 CEP290 LRRIQ1 METTL25 CAPS2 NAV3 RLIG1 OSBPL8 GLIPR1L2 TSPAN19 E2F7 TMTC2 TMTC3 C12orf50 CCER1 LINC01619 GLIPR1L1 POC1B OTOGL ATP2B1-AS1 PTPRQ LINC00615 PLEKHG7 ATXN7L3B CLLU1-AS1 CLLU1 MIR617 MIR618 LINC02458 LOC100130268 MIR1252 LINC02882 LINC02397 POC1B-GALNT4 MIR4699 LINC01490 LINC02426 BTG1-DT PPFIA2-AS1 LINC02445 LINC02394 LNCOG LOC105369850 LINC02464 LINC02424 PPP1R12A-AS2 PPP1R12A-AS1 LINC02820 LOC105369879 LOC105369885 LOC105369889 LINC02399 LINC02392 LINC02823 LINC02404 POC1B-AS1 LINC02258 LOC111365152 LOC112163632 LOC112163633 LOC112163634 LOC112163635 LOC112163636 MIR3059 LOC114827860 LOC116268443 LOC116268444 LOC116268445 PHLDA1-DT PHLDA1-AS1 LOC121466706 LOC121466707 LOC121832843 LOC121838556 LOC121838557 LOC121838558 LOC121838559 GLIPR1-AS1 LOC124629407 LOC124629408 LOC124629409 LOC124629410 LOC124629411 LOC124629412 LOC124629413 LOC124629414 LOC124629415 LOC124629416 LOC124629417 LOC124629418 LOC124629419 LOC124629420 LOC124629421 LOC124629422 LOC124629423 LOC124629424 LOC124629425 LOC124629426 LOC124646378 LOC124646379 LOC126861573 LOC126861574 LOC126861575 LOC126861576 LOC126861577 LOC126861578 LOC126861579 LOC126861580 LOC126861581 LOC126861582 LOC126861583 LOC126861584 LOC126861585 LOC126861586 LOC126861587 LOC126861588 LOC126861589 LOC126861590 LOC126861591 LOC126861592 LOC126861593 LOC126861594 LOC126861595 LOC126861596 LOC126861597 LOC126861598 LOC126861599 LOC129390506 LOC129390507 LOC129390508 LOC129390509 LOC129390510 LOC129390511 LOC129390512 LOC129390513 LOC129390514 LOC129390515 LOC129390516 LOC129390517 LOC129390518 LOC129390519 LOC129390520 LOC129390521 LOC129390522 LOC129390523 LOC129390524 LOC129390525 LOC129390526 LOC129390527 LOC130008298 LOC130008299 LOC130008300 LOC130008301 LOC130008302 LOC130008303 LOC130008304 LOC130008305 LOC130008306 LOC130008307 LOC130008308 LOC130008309 LOC130008310 LOC130008311 LOC130008312 LOC130008313 LOC130008314 LOC130008315 LOC130008316 LOC130008317 LOC130008318 LOC130008319 LOC130008320 LOC130008321 LOC130008322 LOC130008323 LOC130008324 LOC130008325 LOC130008326 LOC130008327 LOC130008328 LOC130008329 LOC130008330 LOC130008331 LOC130008332 LOC130008333 LOC130008334 LOC130008335 LOC130008336 LOC130008337 LOC130008338 LOC130008339 LOC130008340 LOC130008341 LOC130008342 LOC130008343 LOC130008344 LOC130008345 LOC130008346 LOC130008347 LOC130008348 LOC130008349 LOC130008350 LOC130008351 LOC130008352 LOC130008353 LOC130008354 LOC130008355 LOC130008356 LOC130008357 LOC130008358 LOC130008359 LOC130008360 LOC130008361 LOC130008362 LOC130008363 LOC130008364 LOC130008365 LOC130008366 LOC130008367 LOC130008368 LOC130008369 LOC130008370 LOC130008371 LOC130008372 LOC130008373 LOC130008374 LOC130008375 LOC130008376 LOC130008377 LOC130008378 LOC130008379 LOC130008380 LOC130008381 LOC130008382 LOC130008383 LOC130008384 LOC130008385 LOC130008386 LOC130008387 LOC130008388 LOC130008389 LOC130008390 LOC130008391 LOC130008392 LOC130008393 LOC130008394 LOC130008395 LOC130008396 LOC130008397 LOC130008398 LOC130008399 LOC130008400 LOC130008401 LOC130008402 LOC130008403 LOC130008404 LOC132090143
- Associated Variants
-
GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1
GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 12q21.1-22(chr12:73485697-92795805)x1 AND See cases
- ClinVar Allele ID
- 164786
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2014-07-18
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000143099
- Observed Origin Sample
- de novo
Drugs