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GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 7, 2011
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:
RCV000137831.6

Allele description [Variation Report for GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1]

GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1

Genes:
  • AGPAT4:1-acylglycerol-3-phosphate O-acyltransferase 4 [Gene - OMIM - HGNC]
  • AGPAT4-IT1:AGPAT4 intronic transcript 1 [Gene - HGNC]
  • ARID1B:AT-rich interaction domain 1B [Gene - OMIM - HGNC]
  • LOC129997508:ATAC-STARR-seq lymphoblastoid active region 25308 [Gene]
  • LOC129997509:ATAC-STARR-seq lymphoblastoid active region 25309 [Gene]
  • LOC129997512:ATAC-STARR-seq lymphoblastoid active region 25310 [Gene]
  • LOC129997513:ATAC-STARR-seq lymphoblastoid active region 25311 [Gene]
  • LOC129997514:ATAC-STARR-seq lymphoblastoid active region 25313 [Gene]
  • LOC129997515:ATAC-STARR-seq lymphoblastoid active region 25314 [Gene]
  • LOC129997517:ATAC-STARR-seq lymphoblastoid active region 25315 [Gene]
  • LOC129997518:ATAC-STARR-seq lymphoblastoid active region 25316 [Gene]
  • LOC129997519:ATAC-STARR-seq lymphoblastoid active region 25317 [Gene]
  • LOC129997520:ATAC-STARR-seq lymphoblastoid active region 25318 [Gene]
  • LOC129997528:ATAC-STARR-seq lymphoblastoid active region 25319 [Gene]
  • LOC129997529:ATAC-STARR-seq lymphoblastoid active region 25320 [Gene]
  • LOC129997531:ATAC-STARR-seq lymphoblastoid active region 25321 [Gene]
  • LOC129997532:ATAC-STARR-seq lymphoblastoid active region 25322 [Gene]
  • LOC129997533:ATAC-STARR-seq lymphoblastoid active region 25323 [Gene]
  • LOC129997534:ATAC-STARR-seq lymphoblastoid active region 25324 [Gene]
  • LOC129997535:ATAC-STARR-seq lymphoblastoid active region 25325 [Gene]
  • LOC129997538:ATAC-STARR-seq lymphoblastoid active region 25326 [Gene]
  • LOC129997539:ATAC-STARR-seq lymphoblastoid active region 25327 [Gene]
  • LOC129997540:ATAC-STARR-seq lymphoblastoid active region 25328 [Gene]
  • LOC129997541:ATAC-STARR-seq lymphoblastoid active region 25329 [Gene]
  • LOC129997542:ATAC-STARR-seq lymphoblastoid active region 25330 [Gene]
  • LOC129997545:ATAC-STARR-seq lymphoblastoid active region 25331 [Gene]
  • LOC129997546:ATAC-STARR-seq lymphoblastoid active region 25332 [Gene]
  • LOC129997547:ATAC-STARR-seq lymphoblastoid active region 25334 [Gene]
  • LOC129997548:ATAC-STARR-seq lymphoblastoid active region 25338 [Gene]
  • LOC129997550:ATAC-STARR-seq lymphoblastoid active region 25339 [Gene]
  • LOC129997551:ATAC-STARR-seq lymphoblastoid active region 25340 [Gene]
  • LOC129997552:ATAC-STARR-seq lymphoblastoid active region 25341 [Gene]
  • LOC129997556:ATAC-STARR-seq lymphoblastoid active region 25345 [Gene]
  • LOC129997561:ATAC-STARR-seq lymphoblastoid active region 25347 [Gene]
  • LOC129997562:ATAC-STARR-seq lymphoblastoid active region 25348 [Gene]
  • LOC129997563:ATAC-STARR-seq lymphoblastoid active region 25349 [Gene]
  • LOC129997564:ATAC-STARR-seq lymphoblastoid active region 25350 [Gene]
  • LOC129997566:ATAC-STARR-seq lymphoblastoid active region 25351 [Gene]
  • LOC129997567:ATAC-STARR-seq lymphoblastoid active region 25352 [Gene]
  • LOC129997568:ATAC-STARR-seq lymphoblastoid active region 25353 [Gene]
  • LOC129997569:ATAC-STARR-seq lymphoblastoid active region 25354 [Gene]
  • LOC129997570:ATAC-STARR-seq lymphoblastoid active region 25355 [Gene]
  • LOC129997571:ATAC-STARR-seq lymphoblastoid active region 25356 [Gene]
  • LOC129997572:ATAC-STARR-seq lymphoblastoid active region 25357 [Gene]
  • LOC129997573:ATAC-STARR-seq lymphoblastoid active region 25358 [Gene]
  • LOC129997576:ATAC-STARR-seq lymphoblastoid active region 25359 [Gene]
  • LOC129997577:ATAC-STARR-seq lymphoblastoid active region 25360 [Gene]
  • LOC129997578:ATAC-STARR-seq lymphoblastoid active region 25363 [Gene]
  • LOC129997579:ATAC-STARR-seq lymphoblastoid active region 25364 [Gene]
  • LOC129997580:ATAC-STARR-seq lymphoblastoid active region 25365 [Gene]
  • LOC129997582:ATAC-STARR-seq lymphoblastoid active region 25366 [Gene]
  • LOC129997583:ATAC-STARR-seq lymphoblastoid active region 25367 [Gene]
  • LOC129997584:ATAC-STARR-seq lymphoblastoid active region 25368 [Gene]
  • LOC129997588:ATAC-STARR-seq lymphoblastoid active region 25369 [Gene]
  • LOC129997589:ATAC-STARR-seq lymphoblastoid active region 25370 [Gene]
  • LOC129997590:ATAC-STARR-seq lymphoblastoid active region 25373 [Gene]
  • LOC129997591:ATAC-STARR-seq lymphoblastoid active region 25380 [Gene]
  • LOC129997592:ATAC-STARR-seq lymphoblastoid active region 25381 [Gene]
  • LOC129997593:ATAC-STARR-seq lymphoblastoid active region 25382 [Gene]
  • LOC129997594:ATAC-STARR-seq lymphoblastoid active region 25383 [Gene]
  • LOC129997595:ATAC-STARR-seq lymphoblastoid active region 25384 [Gene]
  • LOC129997596:ATAC-STARR-seq lymphoblastoid active region 25385 [Gene]
  • LOC129997598:ATAC-STARR-seq lymphoblastoid active region 25386 [Gene]
  • LOC129997600:ATAC-STARR-seq lymphoblastoid active region 25388 [Gene]
  • LOC129997603:ATAC-STARR-seq lymphoblastoid active region 25391 [Gene]
  • LOC129997606:ATAC-STARR-seq lymphoblastoid active region 25392 [Gene]
  • LOC129997607:ATAC-STARR-seq lymphoblastoid active region 25393 [Gene]
  • LOC129997608:ATAC-STARR-seq lymphoblastoid active region 25394 [Gene]
  • LOC129997609:ATAC-STARR-seq lymphoblastoid active region 25395 [Gene]
  • LOC129997610:ATAC-STARR-seq lymphoblastoid active region 25396 [Gene]
  • LOC129997614:ATAC-STARR-seq lymphoblastoid active region 25397 [Gene]
  • LOC129997615:ATAC-STARR-seq lymphoblastoid active region 25398 [Gene]
  • LOC129997616:ATAC-STARR-seq lymphoblastoid active region 25399 [Gene]
  • LOC129997617:ATAC-STARR-seq lymphoblastoid active region 25401 [Gene]
  • LOC129997618:ATAC-STARR-seq lymphoblastoid active region 25402 [Gene]
  • LOC129997623:ATAC-STARR-seq lymphoblastoid active region 25403 [Gene]
  • LOC129997626:ATAC-STARR-seq lymphoblastoid active region 25404 [Gene]
  • LOC129997627:ATAC-STARR-seq lymphoblastoid active region 25405 [Gene]
  • LOC129997628:ATAC-STARR-seq lymphoblastoid active region 25406 [Gene]
  • LOC129997629:ATAC-STARR-seq lymphoblastoid active region 25407 [Gene]
  • LOC129997630:ATAC-STARR-seq lymphoblastoid active region 25409 [Gene]
  • LOC129997631:ATAC-STARR-seq lymphoblastoid active region 25410 [Gene]
  • LOC129997632:ATAC-STARR-seq lymphoblastoid active region 25411 [Gene]
  • LOC129997633:ATAC-STARR-seq lymphoblastoid active region 25412 [Gene]
  • LOC129997634:ATAC-STARR-seq lymphoblastoid active region 25413 [Gene]
  • LOC129997635:ATAC-STARR-seq lymphoblastoid active region 25414 [Gene]
  • LOC129997636:ATAC-STARR-seq lymphoblastoid active region 25415 [Gene]
  • LOC129997510:ATAC-STARR-seq lymphoblastoid silent region 17704 [Gene]
  • LOC129997511:ATAC-STARR-seq lymphoblastoid silent region 17705 [Gene]
  • LOC129997516:ATAC-STARR-seq lymphoblastoid silent region 17707 [Gene]
  • LOC129997521:ATAC-STARR-seq lymphoblastoid silent region 17708 [Gene]
  • LOC129997522:ATAC-STARR-seq lymphoblastoid silent region 17709 [Gene]
  • LOC129997523:ATAC-STARR-seq lymphoblastoid silent region 17710 [Gene]
  • LOC129997524:ATAC-STARR-seq lymphoblastoid silent region 17711 [Gene]
  • LOC129997525:ATAC-STARR-seq lymphoblastoid silent region 17712 [Gene]
  • LOC129997526:ATAC-STARR-seq lymphoblastoid silent region 17715 [Gene]
  • LOC129997527:ATAC-STARR-seq lymphoblastoid silent region 17716 [Gene]
  • LOC129997530:ATAC-STARR-seq lymphoblastoid silent region 17717 [Gene]
  • LOC129997536:ATAC-STARR-seq lymphoblastoid silent region 17718 [Gene]
  • LOC129997537:ATAC-STARR-seq lymphoblastoid silent region 17719 [Gene]
  • LOC129997543:ATAC-STARR-seq lymphoblastoid silent region 17723 [Gene]
  • LOC129997544:ATAC-STARR-seq lymphoblastoid silent region 17725 [Gene]
  • LOC129997549:ATAC-STARR-seq lymphoblastoid silent region 17727 [Gene]
  • LOC129997553:ATAC-STARR-seq lymphoblastoid silent region 17728 [Gene]
  • LOC129997554:ATAC-STARR-seq lymphoblastoid silent region 17729 [Gene]
  • LOC129997555:ATAC-STARR-seq lymphoblastoid silent region 17730 [Gene]
  • LOC129997557:ATAC-STARR-seq lymphoblastoid silent region 17732 [Gene]
  • LOC129997558:ATAC-STARR-seq lymphoblastoid silent region 17733 [Gene]
  • LOC129997559:ATAC-STARR-seq lymphoblastoid silent region 17734 [Gene]
  • LOC129997560:ATAC-STARR-seq lymphoblastoid silent region 17735 [Gene]
  • LOC129997565:ATAC-STARR-seq lymphoblastoid silent region 17738 [Gene]
  • LOC129997574:ATAC-STARR-seq lymphoblastoid silent region 17739 [Gene]
  • LOC129997575:ATAC-STARR-seq lymphoblastoid silent region 17742 [Gene]
  • LOC129997581:ATAC-STARR-seq lymphoblastoid silent region 17743 [Gene]
  • LOC129997585:ATAC-STARR-seq lymphoblastoid silent region 17744 [Gene]
  • LOC129997586:ATAC-STARR-seq lymphoblastoid silent region 17745 [Gene]
  • LOC129997587:ATAC-STARR-seq lymphoblastoid silent region 17746 [Gene]
  • LOC129997597:ATAC-STARR-seq lymphoblastoid silent region 17748 [Gene]
  • LOC129997599:ATAC-STARR-seq lymphoblastoid silent region 17750 [Gene]
  • LOC129997601:ATAC-STARR-seq lymphoblastoid silent region 17751 [Gene]
  • LOC129997602:ATAC-STARR-seq lymphoblastoid silent region 17752 [Gene]
  • LOC129997604:ATAC-STARR-seq lymphoblastoid silent region 17754 [Gene]
  • LOC129997605:ATAC-STARR-seq lymphoblastoid silent region 17755 [Gene]
  • LOC129997611:ATAC-STARR-seq lymphoblastoid silent region 17756 [Gene]
  • LOC129997612:ATAC-STARR-seq lymphoblastoid silent region 17757 [Gene]
  • LOC129997613:ATAC-STARR-seq lymphoblastoid silent region 17758 [Gene]
  • LOC129997619:ATAC-STARR-seq lymphoblastoid silent region 17759 [Gene]
  • LOC129997620:ATAC-STARR-seq lymphoblastoid silent region 17760 [Gene]
  • LOC129997621:ATAC-STARR-seq lymphoblastoid silent region 17761 [Gene]
  • LOC129997622:ATAC-STARR-seq lymphoblastoid silent region 17762 [Gene]
  • LOC129997624:ATAC-STARR-seq lymphoblastoid silent region 17763 [Gene]
  • LOC129997625:ATAC-STARR-seq lymphoblastoid silent region 17764 [Gene]
  • LOC126859845:BRD4-independent group 4 enhancer GRCh37_chr6:158131630-158132829 [Gene]
  • LOC126859847:BRD4-independent group 4 enhancer GRCh37_chr6:158490014-158491213 [Gene]
  • LOC126859853:BRD4-independent group 4 enhancer GRCh37_chr6:159461684-159462883 [Gene]
  • LOC126859858:BRD4-independent group 4 enhancer GRCh37_chr6:160694323-160695522 [Gene]
  • LOC126859862:BRD4-independent group 4 enhancer GRCh37_chr6:161262159-161263358 [Gene]
  • LOC126859864:BRD4-independent group 4 enhancer GRCh37_chr6:161549261-161550460 [Gene]
  • LOC126859844:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:158069048-158070247 [Gene]
  • LOC126859848:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:158832933-158834132 [Gene]
  • LOC126859855:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:160339473-160340672 [Gene]
  • LOC126859856:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:160419578-160420777 [Gene]
  • LOC126859859:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:160907332-160908531 [Gene]
  • LOC126859860:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:161025992-161027191 [Gene]
  • LOC126859861:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:161158745-161159944 [Gene]
  • LOC126859865:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:161606735-161607934 [Gene]
  • LOC126859866:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:161724387-161725586 [Gene]
  • LOC126859872:CDK7 strongly-dependent group 2 enhancer GRCh37_chr6:163385553-163386752 [Gene]
  • LOC116183077:CRISPRi-validated cis-regulatory element chr6.5510 [Gene]
  • EZR-AS1:EZR antisense RNA 1 [Gene - HGNC]
  • FNDC1-AS1:FNDC1 antisense RNA 1 [Gene - HGNC]
  • FNDC1-IT1:FNDC1 intronic transcript 1 [Gene - HGNC]
  • LOC123881347:H3K4me1 hESC enhancers GRCh37_chr6:157818864-157819364 and GRCh37_chr6:157819365-157819865 [Gene]
  • MAP3K4-AS1:MAP3K4 antisense RNA 1 [Gene - HGNC]
  • MAS1:MAS1 proto-oncogene, G protein-coupled receptor [Gene - OMIM - HGNC]
  • LOC126859851:MED14-independent group 3 enhancer GRCh37_chr6:159193631-159194830 [Gene]
  • LOC126859863:MED14-independent group 3 enhancer GRCh37_chr6:161500530-161501729 [Gene]
  • LOC126859868:MED14-independent group 3 enhancer GRCh37_chr6:162074817-162076016 [Gene]
  • LOC126859869:MED14-independent group 3 enhancer GRCh37_chr6:162484237-162485436 [Gene]
  • LOC126859871:MED14-independent group 3 enhancer GRCh37_chr6:162621359-162622558 [Gene]
  • LOC129389695:MPRA-validated peak6246 silencer [Gene]
  • LOC129389696:MPRA-validated peak6247 silencer [Gene]
  • LOC129389697:MPRA-validated peak6251 silencer [Gene]
  • LOC129389698:MPRA-validated peak6252 silencer [Gene]
  • LOC129389699:MPRA-validated peak6253 silencer [Gene]
  • LOC129389700:MPRA-validated peak6255 silencer [Gene]
  • LOC129389701:MPRA-validated peak6257 silencer [Gene]
  • LOC129389702:MPRA-validated peak6259 silencer [Gene]
  • LOC129389703:MPRA-validated peak6260 silencer [Gene]
  • LOC129389704:MPRA-validated peak6269 silencer [Gene]
  • LOC129389705:MPRA-validated peak6273 silencer [Gene]
  • LOC129389706:MPRA-validated peak6275 silencer [Gene]
  • LOC129389707:MPRA-validated peak6276 silencer [Gene]
  • LOC129389708:MPRA-validated peak6278 silencer [Gene]
  • LOC129389709:MPRA-validated peak6279 silencer [Gene]
  • LOC129389710:MPRA-validated peak6280 silencer [Gene]
  • LOC129389711:MPRA-validated peak6281 silencer [Gene]
  • LOC129389712:MPRA-validated peak6287 silencer [Gene]
  • LOC129389713:MPRA-validated peak6293 silencer [Gene]
  • LOC129389714:MPRA-validated peak6294 silencer [Gene]
  • LOC129389715:MPRA-validated peak6295 silencer [Gene]
  • LOC129389716:MPRA-validated peak6299 silencer [Gene]
  • LOC129389717:MPRA-validated peak6300 silencer [Gene]
  • LOC129389718:MPRA-validated peak6306 silencer [Gene]
  • NOX3:NADPH oxidase 3 [Gene - OMIM - HGNC]
  • LOC132089376:Neanderthal introgressed variant-containing enhancer experimental_91154 [Gene]
  • LOC126859846:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:158183852-158185051 [Gene]
  • LOC126859849:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:159141094-159142293 [Gene]
  • LOC126859850:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:159151193-159152392 [Gene]
  • LOC126859852:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:159205226-159206425 [Gene]
  • LOC126859854:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:160015262-160016461 [Gene]
  • LOC126859857:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:160554924-160556123 [Gene]
  • LOC126859867:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:161736020-161737219 [Gene]
  • LOC126859870:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr6:162520224-162521423 [Gene]
  • PACRG-AS2:PACRG antisense RNA 2 [Gene - HGNC]
  • PNLDC1:PARN like ribonuclease domain containing exonuclease 1 [Gene - OMIM - HGNC]
  • SNX9-AS1:SNX9 antisense RNA 1 [Gene - HGNC]
  • SOD2-OT1:SOD2 overlapping transcript 1 [Gene - HGNC]
  • SYNJ2-IT1:SYNJ2 intronic transcript 1 [Gene - HGNC]
  • LOC123881343:Sharpr-MPRA regulatory region 1028 [Gene]
  • LOC121132712:Sharpr-MPRA regulatory region 10808 [Gene]
  • LOC123881350:Sharpr-MPRA regulatory region 12251 [Gene]
  • LOC123881355:Sharpr-MPRA regulatory region 12427 [Gene]
  • LOC113174972:Sharpr-MPRA regulatory region 12533 [Gene]
  • LOC121132711:Sharpr-MPRA regulatory region 12557 [Gene]
  • LOC123881351:Sharpr-MPRA regulatory region 15079 [Gene]
  • LOC123881357:Sharpr-MPRA regulatory region 15502 [Gene]
  • LOC123881354:Sharpr-MPRA regulatory region 15614 [Gene]
  • LOC123881345:Sharpr-MPRA regulatory region 1838 [Gene]
  • LOC121740671:Sharpr-MPRA regulatory region 4140 [Gene]
  • LOC121132713:Sharpr-MPRA regulatory region 4197 [Gene]
  • LOC123881353:Sharpr-MPRA regulatory region 4567 [Gene]
  • LOC123881348:Sharpr-MPRA regulatory region 4686 [Gene]
  • LOC121132714:Sharpr-MPRA regulatory region 4750 [Gene]
  • LOC123881342:Sharpr-MPRA regulatory region 478 [Gene]
  • LOC123881344:Sharpr-MPRA regulatory region 494 [Gene]
  • LOC123881358:Sharpr-MPRA regulatory region 5576 [Gene]
  • LOC113174971:Sharpr-MPRA regulatory region 6130 [Gene]
  • LOC123881349:Sharpr-MPRA regulatory region 7014 [Gene]
  • LOC123881352:Sharpr-MPRA regulatory region 807 [Gene]
  • LOC123881356:Sharpr-MPRA regulatory region 85 [Gene]
  • LOC121740672:Sharpr-MPRA regulatory region 9512 [Gene]
  • LOC123881346:Sharpr-MPRA regulatory region 9813 [Gene]
  • TAGAP:T cell activation RhoGTPase activating protein [Gene - OMIM - HGNC]
  • TAGAP-AS1:TAGAP antisense RNA 1 [Gene - HGNC]
  • TMEM242-DT:TMEM242 divergent transcript [Gene - HGNC]
  • TULP4:TUB like protein 4 [Gene - OMIM - HGNC]
  • LOC110121075:VISTA enhancer hs1358 [Gene]
  • LOC114827845:VISTA enhancer hs2576 [Gene]
  • WTAP:WT1 associated protein [Gene - OMIM - HGNC]
  • ACAT2:acetyl-CoA acetyltransferase 2 [Gene - OMIM - HGNC]
  • AIRN:antisense of IGF2R non-protein coding RNA [Gene - OMIM - HGNC]
  • DYNLT1:dynein light chain Tctex-type 1 [Gene - OMIM - HGNC]
  • EZR:ezrin [Gene - OMIM - HGNC]
  • FNDC1:fibronectin type III domain containing 1 [Gene - OMIM - HGNC]
  • GTF2H5:general transcription factor IIH subunit 5 [Gene - OMIM - HGNC]
  • IGF2R:insulin like growth factor 2 receptor [Gene - OMIM - HGNC]
  • LPA:lipoprotein(a) [Gene - OMIM - HGNC]
  • LINC02529:long intergenic non-protein coding RNA 2529 [Gene - HGNC]
  • LINC02901:long intergenic non-protein coding RNA 2901 [Gene - HGNC]
  • MIR1202:microRNA 1202 [Gene - HGNC]
  • MIR3692:microRNA 3692 [Gene - HGNC]
  • MIR3918:microRNA 3918 [Gene - HGNC]
  • MIR4466:microRNA 4466 [Gene - HGNC]
  • MIR7161:microRNA 7161 [Gene - HGNC]
  • MRPL18:mitochondrial ribosomal protein L18 [Gene - OMIM - HGNC]
  • MAP3K4:mitogen-activated protein kinase kinase kinase 4 [Gene - OMIM - HGNC]
  • PRKN:parkin RBR E3 ubiquitin protein ligase [Gene - OMIM - HGNC]
  • PACRG:parkin coregulated [Gene - OMIM - HGNC]
  • PLG:plasminogen [Gene - OMIM - HGNC]
  • RSPH3:radial spoke head 3 [Gene - OMIM - HGNC]
  • SERAC1:serine active site containing 1 [Gene - OMIM - HGNC]
  • SNORD28B:small nucleolar RNA, C/D box 28B [Gene - HGNC]
  • SNORA116:small nucleolar RNA, H/ACA box 116 [Gene - HGNC]
  • SNORA20:small nucleolar RNA, H/ACA box 20 [Gene - HGNC]
  • SNORA29:small nucleolar RNA, H/ACA box 29 [Gene - HGNC]
  • SLC22A1:solute carrier family 22 member 1 [Gene - OMIM - HGNC]
  • SLC22A2:solute carrier family 22 member 2 [Gene - OMIM - HGNC]
  • SLC22A3:solute carrier family 22 member 3 [Gene - OMIM - HGNC]
  • SNX9:sorting nexin 9 [Gene - OMIM - HGNC]
  • SOD2:superoxide dismutase 2 [Gene - OMIM - HGNC]
  • SYNJ2:synaptojanin 2 [Gene - OMIM - HGNC]
  • SYTL3:synaptotagmin like 3 [Gene - HGNC]
  • TCP1:t-complex 1 [Gene - OMIM - HGNC]
  • TMEM181:transmembrane protein 181 [Gene - OMIM - HGNC]
  • TMEM242:transmembrane protein 242 [Gene - OMIM - HGNC]
  • LOC102724087:uncharacterized LOC102724087 [Gene]
  • LOC105378068:uncharacterized LOC105378068 [Gene]
  • LOC105378073:uncharacterized LOC105378073 [Gene]
  • LOC105378098:uncharacterized LOC105378098 [Gene]
  • LOC115308161:uncharacterized LOC115308161 [Gene]
  • ZDHHC14:zinc finger DHHC-type palmitoyltransferase 14 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
6q25.3-26
Genomic location:
Preferred name:
GRCh38/hg38 6q25.3-26(chr6:155378049-163133499)x1
HGVS:
  • NC_000006.12:g.(?_155378049)_(163133499_?)del
  • NC_000006.10:g.(?_155740875)_(163474521_?)del
  • NC_000006.11:g.(?_155699183)_(163554531_?)del
Links:
dbVar: nssv1494887; dbVar: nsv869014
Observations:
1

Condition(s)

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

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000178083ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Oct 7, 2011) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot 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, SCV000178083.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: May 7, 2024