Annotation Detail
Information
- Associated Genes
- TNFRSF8 CLCN6 MTOR MTHFR NPPA NPPB PLOD1 EXOSC10 SRM TNFRSF1B PRDM2 DHRS3 MFN2 ANGPTL7 MAD2L2 PDPN MASP2 KAZN TARDBP FBXO2 FBXO6 RNU5E-1 UBIAD1 TMEM51 VPS13D AGTRAP DISP3 MIIP PRAMEF1 PRAMEF2 KIAA2013 CFAP107 FBXO44 FHAD1 LRRC38 AADACL3 TMEM51-AS1 C1orf167 AADACL4 PRAMEF5 HNRNPCL1 PRAMEF9 PRAMEF10 DRAXIN PRAMEF12 PRAMEF8 PRAMEF18 PRAMEF17 PRAMEF4 PRAMEF13 PRAMEF11 PRAMEF6 HNRNPCL2 PRAMEF7 PRAMEF25 PRAMEF26 PRAMEF33 PRAMEF19 PRAMEF20 HNRNPCL3 PRAMEF15 SNORA59A TMEM51-AS2 PRAMEF14 NPPA-AS1 MIR4632 MTOR-AS1 HNRNPCL4 LINC01647 PRAMEF27 MIR7846 MIR6730 MIR6729 C1orf167-AS1 EXOSC10-AS1 LINC02766 LINC01784 KAZN-AS1 LOC110121260 LOC111591499 LOC112577472 LOC112577486 LOC112577487 LOC112577488 LOC112577491 LOC114827827 LOC115801416 LOC120883623 LOC120893113 LOC121967078 LOC121967079 LOC121967080 LOC121967081 LOC121967082 LOC121967083 LOC122056768 LOC126805618 LOC126805619 LOC126805620 LOC126805621 LOC126805622 LOC126805623 LOC126805624 LOC126805625 LOC126805626 LOC126805627 LOC126805628 LOC129388452 LOC129388453 LOC129388454 LOC129388455 LOC129929389 LOC129929390 LOC129929391 LOC129929392 LOC129929393 LOC129929394 LOC129929395 LOC129929396 LOC129929397 LOC129929398 LOC129929399 LOC129929400 LOC129929401 LOC129929402 LOC129929403 LOC129929404 LOC129929405 LOC129929406 LOC129929407 LOC129929408 LOC129929409 LOC129929410 LOC129929411 LOC129929412 LOC129929413 LOC129929414 LOC129929415 LOC129929416 LOC129929417 LOC129929418 LOC129929419 LOC129929420 LOC129929421 LOC129929422 LOC129929423 LOC129929424 LOC129929425 LOC129929426 LOC129929427 LOC129929428 LOC129929429 LOC129929430 LOC129929431 LOC129929432 LOC129929433 LOC129929434 LOC129929435 LOC129929436 LOC129929437 LOC129929438 LOC129929439 LOC129929440 LOC129929441 LOC129929442 LOC129929443 LOC129929444 LOC129929445 LOC129929446 LOC129929447 LOC129929448 LOC129929449 LOC129929450 LOC129929451 LOC129929452 LOC129929453 LOC129929454 LOC129929455 LOC129929456 LOC129929457 LOC129929458 LOC129929459 LOC129929460 LOC129929461 LOC129929462 LOC129929463 LOC129929464 LOC129929465 LOC129929466 LOC129929467 LOC129929468 LOC129929469 LOC129929470 LOC129929471 LOC129929472 LOC129929473 LOC129929474 LOC129929475 LOC129929476 LOC129929477 LOC129929478 LOC129929479 LOC129929480 LOC129929481 LOC129929482 LOC132088624 LOC132088625 LOC132088626 LOC132088642 LOC132088643 LOC132088645
- Associated Variants
-
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3 - Source Database
- ClinVar
- Description
- GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3 AND See cases
- ClinVar Allele ID
- 163185
- Clinical Significance Description
- Likely pathogenic
- Clinical Significance Last Update
- 2013-09-27
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000141823
- Observed Origin Sample
- maternal
Drugs