U.S. flag

An official website of the United States government

GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 22, 2010
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000136556.6

Allele description [Variation Report for GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1]

GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1

Genes:
  • MTRR:5-methyltetrahydrofolate-homocysteine methyltransferase reductase [Gene - OMIM - HGNC]
  • ADAMTS16:ADAM metallopeptidase with thrombospondin type 1 motif 16 [Gene - OMIM - HGNC]
  • ADAMTS16-DT:ADAMTS16 divergent transcript [Gene - HGNC]
  • LOC108251796:AHRR intron CAGE-defined high expression enhancer [Gene]
  • ANKH:ANKH inorganic pyrophosphate transport regulator [Gene - OMIM - HGNC]
  • LOC129993528:ATAC-STARR-seq lymphoblastoid active region 22268 [Gene]
  • LOC129993529:ATAC-STARR-seq lymphoblastoid active region 22269 [Gene]
  • LOC129993530:ATAC-STARR-seq lymphoblastoid active region 22270 [Gene]
  • LOC129993531:ATAC-STARR-seq lymphoblastoid active region 22271 [Gene]
  • LOC129993533:ATAC-STARR-seq lymphoblastoid active region 22272 [Gene]
  • LOC129993536:ATAC-STARR-seq lymphoblastoid active region 22273 [Gene]
  • LOC129993539:ATAC-STARR-seq lymphoblastoid active region 22274 [Gene]
  • LOC129993540:ATAC-STARR-seq lymphoblastoid active region 22275 [Gene]
  • LOC129993541:ATAC-STARR-seq lymphoblastoid active region 22276 [Gene]
  • LOC129993542:ATAC-STARR-seq lymphoblastoid active region 22277 [Gene]
  • LOC129993543:ATAC-STARR-seq lymphoblastoid active region 22278 [Gene]
  • LOC129993544:ATAC-STARR-seq lymphoblastoid active region 22279 [Gene]
  • LOC129993545:ATAC-STARR-seq lymphoblastoid active region 22280 [Gene]
  • LOC129993549:ATAC-STARR-seq lymphoblastoid active region 22281 [Gene]
  • LOC129993550:ATAC-STARR-seq lymphoblastoid active region 22283 [Gene]
  • LOC129993552:ATAC-STARR-seq lymphoblastoid active region 22284 [Gene]
  • LOC129993553:ATAC-STARR-seq lymphoblastoid active region 22285 [Gene]
  • LOC129993554:ATAC-STARR-seq lymphoblastoid active region 22286 [Gene]
  • LOC129993555:ATAC-STARR-seq lymphoblastoid active region 22287 [Gene]
  • LOC129993556:ATAC-STARR-seq lymphoblastoid active region 22288 [Gene]
  • LOC129993557:ATAC-STARR-seq lymphoblastoid active region 22289 [Gene]
  • LOC129993558:ATAC-STARR-seq lymphoblastoid active region 22290 [Gene]
  • LOC129993559:ATAC-STARR-seq lymphoblastoid active region 22291 [Gene]
  • LOC129993561:ATAC-STARR-seq lymphoblastoid active region 22292 [Gene]
  • LOC129993562:ATAC-STARR-seq lymphoblastoid active region 22293 [Gene]
  • LOC129993563:ATAC-STARR-seq lymphoblastoid active region 22294 [Gene]
  • LOC129993565:ATAC-STARR-seq lymphoblastoid active region 22299 [Gene]
  • LOC129993566:ATAC-STARR-seq lymphoblastoid active region 22300 [Gene]
  • LOC129993567:ATAC-STARR-seq lymphoblastoid active region 22301 [Gene]
  • LOC129993568:ATAC-STARR-seq lymphoblastoid active region 22302 [Gene]
  • LOC129993570:ATAC-STARR-seq lymphoblastoid active region 22303 [Gene]
  • LOC129993571:ATAC-STARR-seq lymphoblastoid active region 22304 [Gene]
  • LOC129993572:ATAC-STARR-seq lymphoblastoid active region 22305 [Gene]
  • LOC129993573:ATAC-STARR-seq lymphoblastoid active region 22306 [Gene]
  • LOC129993574:ATAC-STARR-seq lymphoblastoid active region 22307 [Gene]
  • LOC129993580:ATAC-STARR-seq lymphoblastoid active region 22308 [Gene]
  • LOC129993581:ATAC-STARR-seq lymphoblastoid active region 22309 [Gene]
  • LOC129993582:ATAC-STARR-seq lymphoblastoid active region 22310 [Gene]
  • LOC129993583:ATAC-STARR-seq lymphoblastoid active region 22311 [Gene]
  • LOC129993584:ATAC-STARR-seq lymphoblastoid active region 22312 [Gene]
  • LOC129993586:ATAC-STARR-seq lymphoblastoid active region 22313 [Gene]
  • LOC129993587:ATAC-STARR-seq lymphoblastoid active region 22314 [Gene]
  • LOC129993589:ATAC-STARR-seq lymphoblastoid active region 22316 [Gene]
  • LOC129993590:ATAC-STARR-seq lymphoblastoid active region 22317 [Gene]
  • LOC129993591:ATAC-STARR-seq lymphoblastoid active region 22318 [Gene]
  • LOC129993592:ATAC-STARR-seq lymphoblastoid active region 22319 [Gene]
  • LOC129993593:ATAC-STARR-seq lymphoblastoid active region 22320 [Gene]
  • LOC129993594:ATAC-STARR-seq lymphoblastoid active region 22321 [Gene]
  • LOC129993595:ATAC-STARR-seq lymphoblastoid active region 22322 [Gene]
  • LOC129993596:ATAC-STARR-seq lymphoblastoid active region 22323 [Gene]
  • LOC129993601:ATAC-STARR-seq lymphoblastoid active region 22325 [Gene]
  • LOC129993602:ATAC-STARR-seq lymphoblastoid active region 22326 [Gene]
  • LOC129993603:ATAC-STARR-seq lymphoblastoid active region 22327 [Gene]
  • LOC129993605:ATAC-STARR-seq lymphoblastoid active region 22328 [Gene]
  • LOC129993606:ATAC-STARR-seq lymphoblastoid active region 22329 [Gene]
  • LOC129993607:ATAC-STARR-seq lymphoblastoid active region 22330 [Gene]
  • LOC129993609:ATAC-STARR-seq lymphoblastoid active region 22331 [Gene]
  • LOC129993610:ATAC-STARR-seq lymphoblastoid active region 22332 [Gene]
  • LOC129993611:ATAC-STARR-seq lymphoblastoid active region 22333 [Gene]
  • LOC129993613:ATAC-STARR-seq lymphoblastoid active region 22334 [Gene]
  • LOC129993615:ATAC-STARR-seq lymphoblastoid active region 22335 [Gene]
  • LOC129993616:ATAC-STARR-seq lymphoblastoid active region 22336 [Gene]
  • LOC129993621:ATAC-STARR-seq lymphoblastoid active region 22337 [Gene]
  • LOC129993622:ATAC-STARR-seq lymphoblastoid active region 22338 [Gene]
  • LOC129993623:ATAC-STARR-seq lymphoblastoid active region 22339 [Gene]
  • LOC129993624:ATAC-STARR-seq lymphoblastoid active region 22340 [Gene]
  • LOC129993625:ATAC-STARR-seq lymphoblastoid active region 22341 [Gene]
  • LOC129993626:ATAC-STARR-seq lymphoblastoid active region 22342 [Gene]
  • LOC129993627:ATAC-STARR-seq lymphoblastoid active region 22343 [Gene]
  • LOC129993628:ATAC-STARR-seq lymphoblastoid active region 22344 [Gene]
  • LOC129993629:ATAC-STARR-seq lymphoblastoid active region 22345 [Gene]
  • LOC129993630:ATAC-STARR-seq lymphoblastoid active region 22346 [Gene]
  • LOC129993634:ATAC-STARR-seq lymphoblastoid active region 22347 [Gene]
  • LOC129993637:ATAC-STARR-seq lymphoblastoid active region 22348 [Gene]
  • LOC129993639:ATAC-STARR-seq lymphoblastoid active region 22349 [Gene]
  • LOC129993641:ATAC-STARR-seq lymphoblastoid active region 22350 [Gene]
  • LOC129993642:ATAC-STARR-seq lymphoblastoid active region 22351 [Gene]
  • LOC129993650:ATAC-STARR-seq lymphoblastoid active region 22352 [Gene]
  • LOC129993652:ATAC-STARR-seq lymphoblastoid active region 22353 [Gene]
  • LOC129993655:ATAC-STARR-seq lymphoblastoid active region 22354 [Gene]
  • LOC129993657:ATAC-STARR-seq lymphoblastoid active region 22355 [Gene]
  • LOC129993658:ATAC-STARR-seq lymphoblastoid active region 22356 [Gene]
  • LOC129993659:ATAC-STARR-seq lymphoblastoid active region 22360 [Gene]
  • LOC129993660:ATAC-STARR-seq lymphoblastoid active region 22361 [Gene]
  • LOC129993661:ATAC-STARR-seq lymphoblastoid active region 22362 [Gene]
  • LOC129993662:ATAC-STARR-seq lymphoblastoid active region 22363 [Gene]
  • LOC129993663:ATAC-STARR-seq lymphoblastoid active region 22364 [Gene]
  • LOC129993664:ATAC-STARR-seq lymphoblastoid active region 22366 [Gene]
  • LOC129993665:ATAC-STARR-seq lymphoblastoid active region 22367 [Gene]
  • LOC129993667:ATAC-STARR-seq lymphoblastoid active region 22368 [Gene]
  • LOC129993668:ATAC-STARR-seq lymphoblastoid active region 22369 [Gene]
  • LOC129993669:ATAC-STARR-seq lymphoblastoid active region 22370 [Gene]
  • LOC129993670:ATAC-STARR-seq lymphoblastoid active region 22371 [Gene]
  • LOC129993671:ATAC-STARR-seq lymphoblastoid active region 22375 [Gene]
  • LOC129993673:ATAC-STARR-seq lymphoblastoid active region 22376 [Gene]
  • LOC129993675:ATAC-STARR-seq lymphoblastoid active region 22377 [Gene]
  • LOC129993676:ATAC-STARR-seq lymphoblastoid active region 22378 [Gene]
  • LOC129993677:ATAC-STARR-seq lymphoblastoid active region 22379 [Gene]
  • LOC129993679:ATAC-STARR-seq lymphoblastoid active region 22381 [Gene]
  • LOC129993681:ATAC-STARR-seq lymphoblastoid active region 22382 [Gene]
  • LOC129993683:ATAC-STARR-seq lymphoblastoid active region 22383 [Gene]
  • LOC129993684:ATAC-STARR-seq lymphoblastoid active region 22384 [Gene]
  • LOC129993685:ATAC-STARR-seq lymphoblastoid active region 22385 [Gene]
  • LOC129993694:ATAC-STARR-seq lymphoblastoid active region 22387 [Gene]
  • LOC129993695:ATAC-STARR-seq lymphoblastoid active region 22388 [Gene]
  • LOC129993696:ATAC-STARR-seq lymphoblastoid active region 22389 [Gene]
  • LOC129993697:ATAC-STARR-seq lymphoblastoid active region 22390 [Gene]
  • LOC129993698:ATAC-STARR-seq lymphoblastoid active region 22391 [Gene]
  • LOC129993699:ATAC-STARR-seq lymphoblastoid active region 22392 [Gene]
  • LOC129993700:ATAC-STARR-seq lymphoblastoid active region 22393 [Gene]
  • LOC129993701:ATAC-STARR-seq lymphoblastoid active region 22394 [Gene]
  • LOC129993702:ATAC-STARR-seq lymphoblastoid active region 22395 [Gene]
  • LOC129993703:ATAC-STARR-seq lymphoblastoid active region 22396 [Gene]
  • LOC129993704:ATAC-STARR-seq lymphoblastoid active region 22397 [Gene]
  • LOC129993705:ATAC-STARR-seq lymphoblastoid active region 22398 [Gene]
  • LOC129993706:ATAC-STARR-seq lymphoblastoid active region 22399 [Gene]
  • LOC129993708:ATAC-STARR-seq lymphoblastoid active region 22401 [Gene]
  • LOC129993709:ATAC-STARR-seq lymphoblastoid active region 22402 [Gene]
  • LOC129993710:ATAC-STARR-seq lymphoblastoid active region 22403 [Gene]
  • LOC129993713:ATAC-STARR-seq lymphoblastoid active region 22404 [Gene]
  • LOC129993714:ATAC-STARR-seq lymphoblastoid active region 22405 [Gene]
  • LOC129993715:ATAC-STARR-seq lymphoblastoid active region 22406 [Gene]
  • LOC129993716:ATAC-STARR-seq lymphoblastoid active region 22407 [Gene]
  • LOC129993717:ATAC-STARR-seq lymphoblastoid active region 22408 [Gene]
  • LOC129993718:ATAC-STARR-seq lymphoblastoid active region 22409 [Gene]
  • LOC129993719:ATAC-STARR-seq lymphoblastoid active region 22410 [Gene]
  • LOC129993720:ATAC-STARR-seq lymphoblastoid active region 22411 [Gene]
  • LOC129993721:ATAC-STARR-seq lymphoblastoid active region 22412 [Gene]
  • LOC129993722:ATAC-STARR-seq lymphoblastoid active region 22413 [Gene]
  • LOC129993723:ATAC-STARR-seq lymphoblastoid active region 22414 [Gene]
  • LOC129993724:ATAC-STARR-seq lymphoblastoid active region 22417 [Gene]
  • LOC129993728:ATAC-STARR-seq lymphoblastoid active region 22418 [Gene]
  • LOC129993729:ATAC-STARR-seq lymphoblastoid active region 22419 [Gene]
  • LOC129993730:ATAC-STARR-seq lymphoblastoid active region 22420 [Gene]
  • LOC129993731:ATAC-STARR-seq lymphoblastoid active region 22421 [Gene]
  • LOC129993732:ATAC-STARR-seq lymphoblastoid active region 22422 [Gene]
  • LOC129993733:ATAC-STARR-seq lymphoblastoid active region 22423 [Gene]
  • LOC129993532:ATAC-STARR-seq lymphoblastoid silent region 15861 [Gene]
  • LOC129993534:ATAC-STARR-seq lymphoblastoid silent region 15862 [Gene]
  • LOC129993535:ATAC-STARR-seq lymphoblastoid silent region 15863 [Gene]
  • LOC129993537:ATAC-STARR-seq lymphoblastoid silent region 15866 [Gene]
  • LOC129993538:ATAC-STARR-seq lymphoblastoid silent region 15867 [Gene]
  • LOC129993546:ATAC-STARR-seq lymphoblastoid silent region 15868 [Gene]
  • LOC129993547:ATAC-STARR-seq lymphoblastoid silent region 15869 [Gene]
  • LOC129993548:ATAC-STARR-seq lymphoblastoid silent region 15870 [Gene]
  • LOC129993551:ATAC-STARR-seq lymphoblastoid silent region 15871 [Gene]
  • LOC129993560:ATAC-STARR-seq lymphoblastoid silent region 15872 [Gene]
  • LOC129993564:ATAC-STARR-seq lymphoblastoid silent region 15876 [Gene]
  • LOC129993569:ATAC-STARR-seq lymphoblastoid silent region 15879 [Gene]
  • LOC129993575:ATAC-STARR-seq lymphoblastoid silent region 15882 [Gene]
  • LOC129993576:ATAC-STARR-seq lymphoblastoid silent region 15883 [Gene]
  • LOC129993577:ATAC-STARR-seq lymphoblastoid silent region 15884 [Gene]
  • LOC129993578:ATAC-STARR-seq lymphoblastoid silent region 15886 [Gene]
  • LOC129993579:ATAC-STARR-seq lymphoblastoid silent region 15887 [Gene]
  • LOC129993585:ATAC-STARR-seq lymphoblastoid silent region 15888 [Gene]
  • LOC129993588:ATAC-STARR-seq lymphoblastoid silent region 15890 [Gene]
  • LOC129993597:ATAC-STARR-seq lymphoblastoid silent region 15891 [Gene]
  • LOC129993598:ATAC-STARR-seq lymphoblastoid silent region 15892 [Gene]
  • LOC129993599:ATAC-STARR-seq lymphoblastoid silent region 15893 [Gene]
  • LOC129993600:ATAC-STARR-seq lymphoblastoid silent region 15894 [Gene]
  • LOC129993604:ATAC-STARR-seq lymphoblastoid silent region 15895 [Gene]
  • LOC129993608:ATAC-STARR-seq lymphoblastoid silent region 15896 [Gene]
  • LOC129993612:ATAC-STARR-seq lymphoblastoid silent region 15897 [Gene]
  • LOC129993614:ATAC-STARR-seq lymphoblastoid silent region 15898 [Gene]
  • LOC129993617:ATAC-STARR-seq lymphoblastoid silent region 15900 [Gene]
  • LOC129993618:ATAC-STARR-seq lymphoblastoid silent region 15901 [Gene]
  • LOC129993619:ATAC-STARR-seq lymphoblastoid silent region 15902 [Gene]
  • LOC129993620:ATAC-STARR-seq lymphoblastoid silent region 15903 [Gene]
  • LOC129993631:ATAC-STARR-seq lymphoblastoid silent region 15904 [Gene]
  • LOC129993632:ATAC-STARR-seq lymphoblastoid silent region 15905 [Gene]
  • LOC129993633:ATAC-STARR-seq lymphoblastoid silent region 15906 [Gene]
  • LOC129993635:ATAC-STARR-seq lymphoblastoid silent region 15907 [Gene]
  • LOC129993636:ATAC-STARR-seq lymphoblastoid silent region 15908 [Gene]
  • LOC129993638:ATAC-STARR-seq lymphoblastoid silent region 15909 [Gene]
  • LOC129993640:ATAC-STARR-seq lymphoblastoid silent region 15910 [Gene]
  • LOC129993643:ATAC-STARR-seq lymphoblastoid silent region 15911 [Gene]
  • LOC129993644:ATAC-STARR-seq lymphoblastoid silent region 15912 [Gene]
  • LOC129993645:ATAC-STARR-seq lymphoblastoid silent region 15913 [Gene]
  • LOC129993646:ATAC-STARR-seq lymphoblastoid silent region 15914 [Gene]
  • LOC129993647:ATAC-STARR-seq lymphoblastoid silent region 15915 [Gene]
  • LOC129993648:ATAC-STARR-seq lymphoblastoid silent region 15916 [Gene]
  • LOC129993649:ATAC-STARR-seq lymphoblastoid silent region 15917 [Gene]
  • LOC129993651:ATAC-STARR-seq lymphoblastoid silent region 15918 [Gene]
  • LOC129993653:ATAC-STARR-seq lymphoblastoid silent region 15919 [Gene]
  • LOC129993654:ATAC-STARR-seq lymphoblastoid silent region 15920 [Gene]
  • LOC129993656:ATAC-STARR-seq lymphoblastoid silent region 15921 [Gene]
  • LOC129993666:ATAC-STARR-seq lymphoblastoid silent region 15925 [Gene]
  • LOC129993672:ATAC-STARR-seq lymphoblastoid silent region 15926 [Gene]
  • LOC129993674:ATAC-STARR-seq lymphoblastoid silent region 15927 [Gene]
  • LOC129993678:ATAC-STARR-seq lymphoblastoid silent region 15928 [Gene]
  • LOC129993680:ATAC-STARR-seq lymphoblastoid silent region 15929 [Gene]
  • LOC129993682:ATAC-STARR-seq lymphoblastoid silent region 15930 [Gene]
  • LOC129993686:ATAC-STARR-seq lymphoblastoid silent region 15932 [Gene]
  • LOC129993687:ATAC-STARR-seq lymphoblastoid silent region 15933 [Gene]
  • LOC129993688:ATAC-STARR-seq lymphoblastoid silent region 15934 [Gene]
  • LOC129993689:ATAC-STARR-seq lymphoblastoid silent region 15935 [Gene]
  • LOC129993690:ATAC-STARR-seq lymphoblastoid silent region 15936 [Gene]
  • LOC129993691:ATAC-STARR-seq lymphoblastoid silent region 15937 [Gene]
  • LOC129993692:ATAC-STARR-seq lymphoblastoid silent region 15938 [Gene]
  • LOC129993693:ATAC-STARR-seq lymphoblastoid silent region 15939 [Gene]
  • LOC129993707:ATAC-STARR-seq lymphoblastoid silent region 15940 [Gene]
  • LOC129993711:ATAC-STARR-seq lymphoblastoid silent region 15941 [Gene]
  • LOC129993712:ATAC-STARR-seq lymphoblastoid silent region 15942 [Gene]
  • LOC129993725:ATAC-STARR-seq lymphoblastoid silent region 15944 [Gene]
  • LOC129993726:ATAC-STARR-seq lymphoblastoid silent region 15945 [Gene]
  • LOC129993727:ATAC-STARR-seq lymphoblastoid silent region 15946 [Gene]
  • ATPSCKMT:ATP synthase c subunit lysine N-methyltransferase [Gene - OMIM - HGNC]
  • LOC126807316:BRD4-independent group 4 enhancer GRCh37_chr5:11022334-11023533 [Gene]
  • LOC126807321:BRD4-independent group 4 enhancer GRCh37_chr5:14399912-14401111 [Gene]
  • LOC126807285:BRD4-independent group 4 enhancer GRCh37_chr5:1455983-1457182 [Gene]
  • LOC126807286:BRD4-independent group 4 enhancer GRCh37_chr5:1494052-1495251 [Gene]
  • LOC126807287:BRD4-independent group 4 enhancer GRCh37_chr5:1950332-1951531 [Gene]
  • LOC126807288:BRD4-independent group 4 enhancer GRCh37_chr5:2136525-2137724 [Gene]
  • LOC126807289:BRD4-independent group 4 enhancer GRCh37_chr5:2393157-2394356 [Gene]
  • LOC126807292:BRD4-independent group 4 enhancer GRCh37_chr5:2697069-2698268 [Gene]
  • LOC126807293:BRD4-independent group 4 enhancer GRCh37_chr5:2850224-2851423 [Gene]
  • LOC126807294:BRD4-independent group 4 enhancer GRCh37_chr5:3176917-3178116 [Gene]
  • LOC126807281:BRD4-independent group 4 enhancer GRCh37_chr5:399561-400760 [Gene]
  • LOC126807297:BRD4-independent group 4 enhancer GRCh37_chr5:4146354-4147553 [Gene]
  • LOC126807282:BRD4-independent group 4 enhancer GRCh37_chr5:458642-459841 [Gene]
  • LOC126807301:BRD4-independent group 4 enhancer GRCh37_chr5:5943193-5944392 [Gene]
  • LOC113002587:BRD4-independent group 4 enhancer GRCh37_chr5:6408294-6409493 [Gene]
  • LOC126807304:BRD4-independent group 4 enhancer GRCh37_chr5:6965968-6967167 [Gene]
  • LOC126807307:BRD4-independent group 4 enhancer GRCh37_chr5:7928453-7929652 [Gene]
  • LOC126807309:BRD4-independent group 4 enhancer GRCh37_chr5:8090277-8091476 [Gene]
  • LOC126807310:BRD4-independent group 4 enhancer GRCh37_chr5:8549695-8550894 [Gene]
  • LOC126807315:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:10595324-10596523 [Gene]
  • LOC126807284:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:1404958-1406157 [Gene]
  • LOC126807320:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:14108867-14110066 [Gene]
  • LOC126807323:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:14497716-14498915 [Gene]
  • LOC126807326:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:15786420-15787619 [Gene]
  • LOC126807327:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:15936300-15937499 [Gene]
  • LOC126807283:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:618691-619890 [Gene]
  • LOC126807305:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:7066450-7067649 [Gene]
  • LOC126807308:CDK7 strongly-dependent group 2 enhancer GRCh37_chr5:7995658-7996857 [Gene]
  • CEP72-DT:CEP72 divergent transcript [Gene - HGNC]
  • CLPTM1L:CLPTM1 like [Gene - OMIM - HGNC]
  • LOC116158511:CRISPRi-validated cis-regulatory element chr5.422 [Gene]
  • LOC116158512:CRISPRi-validated cis-regulatory element chr5.702 [Gene]
  • DAP-DT:DAP divergent transcript [Gene - HGNC]
  • EXOC3-AS1:EXOC3 antisense RNA 1 [Gene - HGNC]
  • FBXL7:F-box and leucine rich repeat protein 7 [Gene - OMIM - HGNC]
  • FASTKD3:FAST kinase domains 3 [Gene - OMIM - HGNC]
  • IRX2-DT:IRX2 divergent transcript [Gene - OMIM - HGNC]
  • IRX4-AS1:IRX4 antisense RNA 1 [Gene - HGNC]
  • MARCHF11-DT:MARCHF11 divergent transcript [Gene - HGNC]
  • MARCHF6-DT:MARCHF6 divergent transcript [Gene - HGNC]
  • LOC126807314:MED14-independent group 3 enhancer GRCh37_chr5:10420944-10422143 [Gene]
  • LOC126807318:MED14-independent group 3 enhancer GRCh37_chr5:13858976-13860175 [Gene]
  • LOC126807325:MED14-independent group 3 enhancer GRCh37_chr5:14925588-14926787 [Gene]
  • LOC126807280:MED14-independent group 3 enhancer GRCh37_chr5:169157-170356 [Gene]
  • LOC126807290:MED14-independent group 3 enhancer GRCh37_chr5:2655710-2656909 [Gene]
  • LOC126807291:MED14-independent group 3 enhancer GRCh37_chr5:2658151-2659350 [Gene]
  • LOC126807295:MED14-independent group 3 enhancer GRCh37_chr5:3310881-3312080 [Gene]
  • LOC126807296:MED14-independent group 3 enhancer GRCh37_chr5:4019241-4020440 [Gene]
  • LOC126807298:MED14-independent group 3 enhancer GRCh37_chr5:4374726-4375925 [Gene]
  • LOC126807303:MED14-independent group 3 enhancer GRCh37_chr5:6772403-6773602 [Gene]
  • LOC126807306:MED14-independent group 3 enhancer GRCh37_chr5:7667125-7668324 [Gene]
  • LOC126807311:MED14-independent group 3 enhancer GRCh37_chr5:8828894-8830093 [Gene]
  • LOC126807312:MED14-independent group 3 enhancer GRCh37_chr5:9013731-9014930 [Gene]
  • LOC126807313:MED14-independent group 3 enhancer GRCh37_chr5:9775483-9776682 [Gene]
  • MIR4458HG:MIR4458 host gene [Gene - HGNC]
  • MNS16A:MNS16A minisatellite promoter [Gene]
  • NDUFS6:NADH:ubiquinone oxidoreductase subunit S6 [Gene - OMIM - HGNC]
  • NKD2:NKD inhibitor of WNT signaling pathway 2 [Gene - OMIM - HGNC]
  • NSUN2:NOP2/Sun RNA methyltransferase 2 [Gene - OMIM - HGNC]
  • LOC132089161:Neanderthal introgressed variant-containing enhancer experimental_80752 [Gene]
  • LOC132090724:Neanderthal introgressed variant-containing enhancer experimental_80773 [Gene]
  • LOC132090725:Neanderthal introgressed variant-containing enhancer experimental_83860 [Gene]
  • LOC132089231:Neanderthal introgressed variant-containing enhancer experimental_83872 [Gene]
  • LOC132090726:Neanderthal introgressed variant-containing enhancer experimental_83887 [Gene]
  • LOC132089232:Neanderthal introgressed variant-containing enhancer experimental_83908 [Gene]
  • LOC132089233:Neanderthal introgressed variant-containing enhancer experimental_83940 [Gene]
  • LOC132089234:Neanderthal introgressed variant-containing enhancer experimental_83970 [Gene]
  • LOC132089235:Neanderthal introgressed variant-containing enhancer experimental_83975 [Gene]
  • LOC132089236:Neanderthal introgressed variant-containing enhancer experimental_84195 [Gene]
  • LOC132089237:Neanderthal introgressed variant-containing enhancer experimental_84199 [Gene]
  • LOC132089249:Neanderthal introgressed variant-containing enhancer experimental_85003 [Gene]
  • LOC132090719:Neanderthal introgressed variant-containing enhancer experimental_85008 [Gene]
  • LOC132089250:Neanderthal introgressed variant-containing enhancer experimental_85009 [Gene]
  • LOC132089251:Neanderthal introgressed variant-containing enhancer experimental_85011 [Gene]
  • LOC132089252:Neanderthal introgressed variant-containing enhancer experimental_85012 [Gene]
  • LOC132090720:Neanderthal introgressed variant-containing enhancer experimental_85017 [Gene]
  • LOC132089253:Neanderthal introgressed variant-containing enhancer experimental_85030 [Gene]
  • LOC132089272:Neanderthal introgressed variant-containing enhancer experimental_85954 [Gene]
  • LOC132089273:Neanderthal introgressed variant-containing enhancer experimental_85959 [Gene]
  • LOC132089274:Neanderthal introgressed variant-containing enhancer experimental_85978 [Gene]
  • LOC132089275:Neanderthal introgressed variant-containing enhancer experimental_86175 [Gene]
  • LOC132089289:Neanderthal introgressed variant-containing enhancer experimental_86692/86693 [Gene]
  • LOC132090721:Neanderthal introgressed variant-containing enhancer experimental_86701 [Gene]
  • LOC132089290:Neanderthal introgressed variant-containing enhancer experimental_86736 [Gene]
  • LOC132089291:Neanderthal introgressed variant-containing enhancer experimental_86741 [Gene]
  • LOC132089292:Neanderthal introgressed variant-containing enhancer experimental_86745 [Gene]
  • LOC132090722:Neanderthal introgressed variant-containing enhancer experimental_86749/86750 [Gene]
  • LOC132089293:Neanderthal introgressed variant-containing enhancer experimental_86753 [Gene]
  • LOC132089294:Neanderthal introgressed variant-containing enhancer experimental_86779 [Gene]
  • LOC132089295:Neanderthal introgressed variant-containing enhancer experimental_86783 [Gene]
  • LOC132089296:Neanderthal introgressed variant-containing enhancer experimental_86799 [Gene]
  • LOC132089297:Neanderthal introgressed variant-containing enhancer experimental_86803 [Gene]
  • LOC132089298:Neanderthal introgressed variant-containing enhancer experimental_86807 [Gene]
  • LOC132089299:Neanderthal introgressed variant-containing enhancer experimental_86811 [Gene]
  • LOC132089300:Neanderthal introgressed variant-containing enhancer experimental_86819 [Gene]
  • LOC132089301:Neanderthal introgressed variant-containing enhancer experimental_86831 [Gene]
  • LOC132089302:Neanderthal introgressed variant-containing enhancer experimental_86835 [Gene]
  • LOC132090723:Neanderthal introgressed variant-containing enhancer experimental_86841/86842 [Gene]
  • LOC132089303:Neanderthal introgressed variant-containing enhancer experimental_86882 [Gene]
  • LOC132205959:Neanderthal introgressed variant-containing enhancers experimental_86823 and experimental_86827 [Gene]
  • LOC123493263:OCT4-NANOG-H3K27ac hESC enhancers GRCh37_chr5:5179213-5179956 and GRCh37_chr5:5179957-5180699 [Gene]
  • OTULINL:OTU deubiquitinase with linear linkage specificity like [Gene - HGNC]
  • OTULIN:OTU deubiquitinase with linear linkage specificity [Gene - OMIM - HGNC]
  • OTULIN-DT:OTULIN divergent transcript [Gene - HGNC]
  • LOC126807317:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:13567313-13568512 [Gene]
  • LOC126807319:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:14035876-14037075 [Gene]
  • LOC126807322:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:14406263-14407462 [Gene]
  • LOC126807324:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:14809578-14810777 [Gene]
  • LOC126807299:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:4584395-4585594 [Gene]
  • LOC126807300:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:5145575-5146774 [Gene]
  • LOC112997593:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:5598283-5599482 [Gene]
  • LOC126807302:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr5:6158863-6160062 [Gene]
  • PDCD6-DT:PDCD6 divergent transcript [Gene - HGNC]
  • PDCD6-AHRR:PDCD6-AHRR readthrough (NMD candidate) [Gene - HGNC]
  • ROPN1L-AS1:ROPN1L antisense RNA 1 [Gene - HGNC]
  • SEMA5A-AS1:SEMA5A antisense RNA 1 [Gene - HGNC]
  • SLC9A3-OT1:SLC9A3 3' UTR overlapping transcript 1 [Gene - HGNC]
  • SLC9A3-AS1:SLC9A3 antisense RNA 1 [Gene - HGNC]
  • LOC123493268:Sharpr-MPRA regulatory region 11758 [Gene]
  • LOC121725197:Sharpr-MPRA regulatory region 11960 [Gene]
  • LOC123493266:Sharpr-MPRA regulatory region 1238 [Gene]
  • LOC112997551:Sharpr-MPRA regulatory region 12583 [Gene]
  • LOC112997550:Sharpr-MPRA regulatory region 12783 [Gene]
  • LOC123493259:Sharpr-MPRA regulatory region 13256 [Gene]
  • LOC113002586:Sharpr-MPRA regulatory region 13881 [Gene]
  • LOC123493270:Sharpr-MPRA regulatory region 14564 [Gene]
  • LOC121056759:Sharpr-MPRA regulatory region 14782 [Gene]
  • LOC121725198:Sharpr-MPRA regulatory region 1512 [Gene]
  • LOC123493257:Sharpr-MPRA regulatory region 15179 [Gene]
  • LOC123493258:Sharpr-MPRA regulatory region 1606 [Gene]
  • LOC123493265:Sharpr-MPRA regulatory region 1766 [Gene]
  • LOC112997586:Sharpr-MPRA regulatory region 1936 [Gene]
  • LOC123493267:Sharpr-MPRA regulatory region 1944 [Gene]
  • LOC123493256:Sharpr-MPRA regulatory region 259 [Gene]
  • LOC123493262:Sharpr-MPRA regulatory region 3294 [Gene]
  • LOC112997549:Sharpr-MPRA regulatory region 3968 [Gene]
  • LOC123493271:Sharpr-MPRA regulatory region 4048 [Gene]
  • LOC121056758:Sharpr-MPRA regulatory region 4144 [Gene]
  • LOC121056760:Sharpr-MPRA regulatory region 5011 [Gene]
  • LOC123493261:Sharpr-MPRA regulatory region 501 [Gene]
  • LOC123493269:Sharpr-MPRA regulatory region 5150 [Gene]
  • LOC123493272:Sharpr-MPRA regulatory region 7449 [Gene]
  • LOC112997548:Sharpr-MPRA regulatory region 8068 [Gene]
  • LOC123493264:Sharpr-MPRA regulatory region 9370 [Gene]
  • LOC123493260:Sharpr-MPRA regulatory region 9592 [Gene]
  • LOC111828522:Sharpr-MPRA regulatory regions 9329 and 12995 [Gene]
  • LOC110806263:TERT 5' regulatory region [Gene]
  • LOC110806264:TERT enhancer in intron 2 [Gene]
  • TERLR1:TERT regulating lncRNA 1 [Gene - HGNC]
  • LOC110121060:VISTA enhancer hs1327 [Gene]
  • LOC114827841:VISTA enhancer hs2567 [Gene]
  • LOC110120635:VISTA enhancer hs261 [Gene]
  • LOC110120695:VISTA enhancer hs533 [Gene]
  • LOC110120713:VISTA enhancer hs603 [Gene]
  • LOC110120722:VISTA enhancer hs633 [Gene]
  • LOC110120760:VISTA enhancer hs754 [Gene]
  • ADCY2:adenylate cyclase 2 [Gene - OMIM - HGNC]
  • ANKRD33B:ankyrin repeat domain 33B [Gene - HGNC]
  • AHRR:aryl hydrocarbon receptor repressor [Gene - OMIM - HGNC]
  • BRD9:bromodomain containing 9 [Gene - OMIM - HGNC]
  • CMBL:carboxymethylenebutenolidase homolog [Gene - OMIM - HGNC]
  • CTNND2:catenin delta 2 [Gene - OMIM - HGNC]
  • CEP72:centrosomal protein 72 [Gene - OMIM - HGNC]
  • CCT5:chaperonin containing TCP1 subunit 5 [Gene - OMIM - HGNC]
  • CFAP90:cilia and flagella associated protein 90 [Gene - HGNC]
  • CCDC127:coiled-coil domain containing 127 [Gene - HGNC]
  • DAP:death associated protein [Gene - OMIM - HGNC]
  • DNAH5:dynein axonemal heavy chain 5 [Gene - OMIM - HGNC]
  • LOC124901163:eukaryotic translation initiation factor 3 subunit A [Gene]
  • EXOC3:exocyst complex component 3 [Gene - OMIM - HGNC]
  • ICE1:interactor of little elongation complex ELL subunit 1 [Gene - OMIM - HGNC]
  • IRX1:iroquois homeobox 1 [Gene - OMIM - HGNC]
  • IRX2:iroquois homeobox 2 [Gene - OMIM - HGNC]
  • IRX4:iroquois homeobox 4 [Gene - OMIM - HGNC]
  • LRRC14B:leucine rich repeat containing 14B [Gene - HGNC]
  • LINC01017:long intergenic non-protein coding RNA 1017 [Gene - HGNC]
  • LINC01018:long intergenic non-protein coding RNA 1018 [Gene - OMIM - HGNC]
  • LINC01019:long intergenic non-protein coding RNA 1019 [Gene - HGNC]
  • LINC01020:long intergenic non-protein coding RNA 1020 [Gene - HGNC]
  • LINC01194:long intergenic non-protein coding RNA 1194 [Gene - OMIM - HGNC]
  • LINC01377:long intergenic non-protein coding RNA 1377 [Gene - HGNC]
  • LINC01511:long intergenic non-protein coding RNA 1511 [Gene - HGNC]
  • LINC02063:long intergenic non-protein coding RNA 2063 [Gene - HGNC]
  • LINC02102:long intergenic non-protein coding RNA 2102 [Gene - HGNC]
  • LINC02112:long intergenic non-protein coding RNA 2112 [Gene - HGNC]
  • LINC02114:long intergenic non-protein coding RNA 2114 [Gene - HGNC]
  • LINC02116:long intergenic non-protein coding RNA 2116 [Gene - HGNC]
  • LINC02121:long intergenic non-protein coding RNA 2121 [Gene - HGNC]
  • LINC02123:long intergenic non-protein coding RNA 2123 [Gene - HGNC]
  • LINC02142:long intergenic non-protein coding RNA 2142 [Gene - HGNC]
  • LINC02145:long intergenic non-protein coding RNA 2145 [Gene - HGNC]
  • LINC02149:long intergenic non-protein coding RNA 2149 [Gene - HGNC]
  • LINC02150:long intergenic non-protein coding RNA 2150 [Gene - HGNC]
  • LINC02162:long intergenic non-protein coding RNA 2162 [Gene - HGNC]
  • LINC02199:long intergenic non-protein coding RNA 2199 [Gene - HGNC]
  • LINC02212:long intergenic non-protein coding RNA 2212 [Gene - HGNC]
  • LINC02213:long intergenic non-protein coding RNA 2213 [Gene - HGNC]
  • LINC02220:long intergenic non-protein coding RNA 2220 [Gene - HGNC]
  • LINC02221:long intergenic non-protein coding RNA 2221 [Gene - HGNC]
  • LINC02226:long intergenic non-protein coding RNA 2226 [Gene - HGNC]
  • LINC02236:long intergenic non-protein coding RNA 2236 [Gene - HGNC]
  • LINC02982:long intergenic non-protein coding RNA 2982 [Gene - HGNC]
  • LSINCT5:long stress-induced non-coding transcript 5 [Gene - OMIM - HGNC]
  • LPCAT1:lysophosphatidylcholine acyltransferase 1 [Gene - OMIM - HGNC]
  • MED10:mediator complex subunit 10 [Gene - OMIM - HGNC]
  • LOC107758904:meiotic recombination hotspot 5A [Gene]
  • LOC107457585:meiotic recombination hotspot J [Gene]
  • LOC128772262:melanoma risk locus-associated MPRA allelic enhancer 5:1320136 [Gene]
  • LOC128772263:melanoma risk locus-associated MPRA allelic enhancer 5:1330840 [Gene]
  • LOC128772264:melanoma risk locus-associated MPRA allelic enhancer 5:1341101 [Gene]
  • MARCHF11:membrane associated ring-CH-type finger 11 [Gene - OMIM - HGNC]
  • MARCHF6:membrane associated ring-CH-type finger 6 [Gene - OMIM - HGNC]
  • MIR10397:microRNA 10397 [Gene - HGNC]
  • MIR4277:microRNA 4277 [Gene - HGNC]
  • MIR4278:microRNA 4278 [Gene - HGNC]
  • MIR4456:microRNA 4456 [Gene - HGNC]
  • MIR4457:microRNA 4457 [Gene - HGNC]
  • MIR4458:microRNA 4458 [Gene - HGNC]
  • MIR4635:microRNA 4635 [Gene - HGNC]
  • MIR4636:microRNA 4636 [Gene - HGNC]
  • MIR4637:microRNA 4637 [Gene - HGNC]
  • MIR6075:microRNA 6075 [Gene - HGNC]
  • MIR6131:microRNA 6131 [Gene - HGNC]
  • MIR887:microRNA 887 [Gene - OMIM - HGNC]
  • MRPL36:mitochondrial ribosomal protein L36 [Gene - OMIM - HGNC]
  • PLEKHG4B:pleckstrin homology and RhoGEF domain containing G4B [Gene - OMIM - HGNC]
  • PDCD6:programmed cell death 6 [Gene - OMIM - HGNC]
  • RETREG1:reticulophagy regulator 1 [Gene - OMIM - HGNC]
  • ROPN1L:rhophilin associated tail protein 1 like [Gene - OMIM - HGNC]
  • SEMA5A:semaphorin 5A [Gene - OMIM - HGNC]
  • SNHG18:small nucleolar RNA host gene 18 [Gene - HGNC]
  • SNORD123:small nucleolar RNA, C/D box 123 [Gene - HGNC]
  • SNORD141B:small nucleolar RNA, C/D box 141B [Gene - HGNC]
  • SNORD170:small nucleolar RNA, C/D box 170 [Gene - HGNC]
  • SLC12A7:solute carrier family 12 member 7 [Gene - OMIM - HGNC]
  • SLC6A18:solute carrier family 6 member 18 [Gene - OMIM - HGNC]
  • SLC6A19:solute carrier family 6 member 19 [Gene - OMIM - HGNC]
  • SLC6A3:solute carrier family 6 member 3 [Gene - OMIM - HGNC]
  • SLC9A3:solute carrier family 9 member A3 [Gene - OMIM - HGNC]
  • SRD5A1:steroid 5 alpha-reductase 1 [Gene - OMIM - HGNC]
  • SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]
  • TAS2R1:taste 2 receptor member 1 [Gene - OMIM - HGNC]
  • TERT:telomerase reverse transcriptase [Gene - OMIM - HGNC]
  • TENT4A:terminal nucleotidyltransferase 4A [Gene - OMIM - HGNC]
  • TRIP13:thyroid hormone receptor interactor 13 [Gene - OMIM - HGNC]
  • TRIO:trio Rho guanine nucleotide exchange factor [Gene - OMIM - HGNC]
  • TPPP:tubulin polymerization promoting protein [Gene - OMIM - HGNC]
  • UBE2QL1:ubiquitin conjugating enzyme E2 QL1 [Gene - OMIM - HGNC]
  • CTD-2154B17.1:uncharacterized CTD-2154B17.1 [Gene]
  • LOC100130744:uncharacterized LOC100130744 [Gene]
  • LOC100506858:uncharacterized LOC100506858 [Gene]
  • CTD-2194D22.4:uncharacterized LOC101929081 [Gene]
  • CTD-2350J17.1:uncharacterized LOC101929472 [Gene]
  • LOC105374618:uncharacterized LOC105374618 [Gene]
  • LOC105374620:uncharacterized LOC105374620 [Gene]
  • LOC105374629:uncharacterized LOC105374629 [Gene]
  • LOC105374642:uncharacterized LOC105374642 [Gene]
  • LOC105374645:uncharacterized LOC105374645 [Gene]
  • LOC105374647:uncharacterized LOC105374647 [Gene]
  • LOC105374655:uncharacterized LOC105374655 [Gene]
  • ZDHHC11:zinc finger DHHC-type containing 11 [Gene - HGNC]
  • ZDHHC11B:zinc finger DHHC-type containing 11B [Gene - HGNC]
  • ZNF622:zinc finger protein 622 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
5p15.33-15.1
Genomic location:
Preferred name:
GRCh38/hg38 5p15.33-15.1(chr5:22149-16584575)x1
HGVS:
  • NC_000005.10:g.(?_22149)_(16584575_?)del
  • NC_000005.8:g.(?_75149)_(16637684_?)del
  • NC_000005.9:g.(?_22149)_(16584684_?)del
Links:
dbVar: nssv583016; dbVar: nsv533869
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000176639ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Dec 22, 2010) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
humannot providedyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.

Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, Church DM, Crolla JA, Eichler EE, Epstein CJ, Faucett WA, Feuk L, Friedman JM, Hamosh A, Jackson L, Kaminsky EB, Kok K, Krantz ID, Kuhn RM, Lee C, Ostell JM, Rosenberg C, et al.

Am J Hum Genet. 2010 May 14;86(5):749-64. doi: 10.1016/j.ajhg.2010.04.006. Review.

PubMed [citation]
PMID:
20466091
PMCID:
PMC2869000

Details of each submission

From ISCA site 1, SCV000176639.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1human1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024