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GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)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:
RCV000136636.5

Allele description [Variation Report for GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1]

GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1

Genes:
  • ACBD3-AS1:ACBD3 antisense RNA 1 [Gene - HGNC]
  • ARF1:ADP ribosylation factor 1 [Gene - OMIM - HGNC]
  • LOC129932570:ATAC-STARR-seq lymphoblastoid active region 2589 [Gene]
  • LOC129932571:ATAC-STARR-seq lymphoblastoid active region 2590 [Gene]
  • LOC129932572:ATAC-STARR-seq lymphoblastoid active region 2591 [Gene]
  • LOC129932574:ATAC-STARR-seq lymphoblastoid active region 2593 [Gene]
  • LOC129932575:ATAC-STARR-seq lymphoblastoid active region 2594 [Gene]
  • LOC129932576:ATAC-STARR-seq lymphoblastoid active region 2595 [Gene]
  • LOC129932577:ATAC-STARR-seq lymphoblastoid active region 2596 [Gene]
  • LOC129932578:ATAC-STARR-seq lymphoblastoid active region 2597 [Gene]
  • LOC129932579:ATAC-STARR-seq lymphoblastoid active region 2598 [Gene]
  • LOC129932580:ATAC-STARR-seq lymphoblastoid active region 2602 [Gene]
  • LOC129932582:ATAC-STARR-seq lymphoblastoid active region 2603 [Gene]
  • LOC129932584:ATAC-STARR-seq lymphoblastoid active region 2604 [Gene]
  • LOC129932585:ATAC-STARR-seq lymphoblastoid active region 2605 [Gene]
  • LOC129932586:ATAC-STARR-seq lymphoblastoid active region 2606 [Gene]
  • LOC129932587:ATAC-STARR-seq lymphoblastoid active region 2607 [Gene]
  • LOC129932588:ATAC-STARR-seq lymphoblastoid active region 2608 [Gene]
  • LOC129932589:ATAC-STARR-seq lymphoblastoid active region 2609 [Gene]
  • LOC129932590:ATAC-STARR-seq lymphoblastoid active region 2610 [Gene]
  • LOC129932591:ATAC-STARR-seq lymphoblastoid active region 2611 [Gene]
  • LOC129932593:ATAC-STARR-seq lymphoblastoid active region 2612 [Gene]
  • LOC129932594:ATAC-STARR-seq lymphoblastoid active region 2615 [Gene]
  • LOC129932595:ATAC-STARR-seq lymphoblastoid active region 2616 [Gene]
  • LOC129932596:ATAC-STARR-seq lymphoblastoid active region 2617 [Gene]
  • LOC129932597:ATAC-STARR-seq lymphoblastoid active region 2618 [Gene]
  • LOC129932600:ATAC-STARR-seq lymphoblastoid active region 2619 [Gene]
  • LOC129932601:ATAC-STARR-seq lymphoblastoid active region 2620 [Gene]
  • LOC129932602:ATAC-STARR-seq lymphoblastoid active region 2621 [Gene]
  • LOC129932603:ATAC-STARR-seq lymphoblastoid active region 2622 [Gene]
  • LOC129932604:ATAC-STARR-seq lymphoblastoid active region 2624 [Gene]
  • LOC129932605:ATAC-STARR-seq lymphoblastoid active region 2625 [Gene]
  • LOC129932606:ATAC-STARR-seq lymphoblastoid active region 2626 [Gene]
  • LOC129932608:ATAC-STARR-seq lymphoblastoid active region 2627 [Gene]
  • LOC129932610:ATAC-STARR-seq lymphoblastoid active region 2629 [Gene]
  • LOC129932612:ATAC-STARR-seq lymphoblastoid active region 2630 [Gene]
  • LOC129932614:ATAC-STARR-seq lymphoblastoid active region 2631 [Gene]
  • LOC129932617:ATAC-STARR-seq lymphoblastoid active region 2632 [Gene]
  • LOC129932618:ATAC-STARR-seq lymphoblastoid active region 2633 [Gene]
  • LOC129932619:ATAC-STARR-seq lymphoblastoid active region 2635 [Gene]
  • LOC129932620:ATAC-STARR-seq lymphoblastoid active region 2636 [Gene]
  • LOC129932621:ATAC-STARR-seq lymphoblastoid active region 2637 [Gene]
  • LOC129932625:ATAC-STARR-seq lymphoblastoid active region 2638 [Gene]
  • LOC129932626:ATAC-STARR-seq lymphoblastoid active region 2639 [Gene]
  • LOC129932627:ATAC-STARR-seq lymphoblastoid active region 2640 [Gene]
  • LOC129932629:ATAC-STARR-seq lymphoblastoid active region 2641 [Gene]
  • LOC129932630:ATAC-STARR-seq lymphoblastoid active region 2642 [Gene]
  • LOC129932631:ATAC-STARR-seq lymphoblastoid active region 2643 [Gene]
  • LOC129932632:ATAC-STARR-seq lymphoblastoid active region 2644 [Gene]
  • LOC129932634:ATAC-STARR-seq lymphoblastoid active region 2645 [Gene]
  • LOC129932643:ATAC-STARR-seq lymphoblastoid active region 2646 [Gene]
  • LOC129932644:ATAC-STARR-seq lymphoblastoid active region 2647 [Gene]
  • LOC129932646:ATAC-STARR-seq lymphoblastoid active region 2648 [Gene]
  • LOC129932647:ATAC-STARR-seq lymphoblastoid active region 2649 [Gene]
  • LOC129932648:ATAC-STARR-seq lymphoblastoid active region 2650 [Gene]
  • LOC129932649:ATAC-STARR-seq lymphoblastoid active region 2651 [Gene]
  • LOC129932652:ATAC-STARR-seq lymphoblastoid active region 2652 [Gene]
  • LOC129932654:ATAC-STARR-seq lymphoblastoid active region 2653 [Gene]
  • LOC129932655:ATAC-STARR-seq lymphoblastoid active region 2654 [Gene]
  • LOC129932656:ATAC-STARR-seq lymphoblastoid active region 2656 [Gene]
  • LOC129932657:ATAC-STARR-seq lymphoblastoid active region 2657 [Gene]
  • LOC129932658:ATAC-STARR-seq lymphoblastoid active region 2659 [Gene]
  • LOC129932659:ATAC-STARR-seq lymphoblastoid active region 2661 [Gene]
  • LOC129932660:ATAC-STARR-seq lymphoblastoid active region 2662 [Gene]
  • LOC129932662:ATAC-STARR-seq lymphoblastoid active region 2663 [Gene]
  • LOC129932663:ATAC-STARR-seq lymphoblastoid active region 2664 [Gene]
  • LOC129932664:ATAC-STARR-seq lymphoblastoid active region 2665 [Gene]
  • LOC129932668:ATAC-STARR-seq lymphoblastoid active region 2666 [Gene]
  • LOC129932669:ATAC-STARR-seq lymphoblastoid active region 2667 [Gene]
  • LOC129932670:ATAC-STARR-seq lymphoblastoid active region 2668 [Gene]
  • LOC129932671:ATAC-STARR-seq lymphoblastoid active region 2669 [Gene]
  • LOC129932674:ATAC-STARR-seq lymphoblastoid active region 2670 [Gene]
  • LOC129932676:ATAC-STARR-seq lymphoblastoid active region 2671 [Gene]
  • LOC129932677:ATAC-STARR-seq lymphoblastoid active region 2672 [Gene]
  • LOC129932680:ATAC-STARR-seq lymphoblastoid active region 2673 [Gene]
  • LOC129932683:ATAC-STARR-seq lymphoblastoid active region 2676 [Gene]
  • LOC129932685:ATAC-STARR-seq lymphoblastoid active region 2677 [Gene]
  • LOC129932686:ATAC-STARR-seq lymphoblastoid active region 2678 [Gene]
  • LOC129932687:ATAC-STARR-seq lymphoblastoid active region 2679 [Gene]
  • LOC129932688:ATAC-STARR-seq lymphoblastoid active region 2680 [Gene]
  • LOC129932691:ATAC-STARR-seq lymphoblastoid active region 2681 [Gene]
  • LOC129932692:ATAC-STARR-seq lymphoblastoid active region 2682 [Gene]
  • LOC129932693:ATAC-STARR-seq lymphoblastoid active region 2683 [Gene]
  • LOC129932694:ATAC-STARR-seq lymphoblastoid active region 2684 [Gene]
  • LOC129932695:ATAC-STARR-seq lymphoblastoid active region 2685 [Gene]
  • LOC129932699:ATAC-STARR-seq lymphoblastoid active region 2686 [Gene]
  • LOC129932703:ATAC-STARR-seq lymphoblastoid active region 2687 [Gene]
  • LOC129932707:ATAC-STARR-seq lymphoblastoid active region 2688 [Gene]
  • LOC129932708:ATAC-STARR-seq lymphoblastoid active region 2689 [Gene]
  • LOC129932709:ATAC-STARR-seq lymphoblastoid active region 2690 [Gene]
  • LOC129932711:ATAC-STARR-seq lymphoblastoid active region 2691 [Gene]
  • LOC129932712:ATAC-STARR-seq lymphoblastoid active region 2692 [Gene]
  • LOC129932715:ATAC-STARR-seq lymphoblastoid active region 2693 [Gene]
  • LOC129932719:ATAC-STARR-seq lymphoblastoid active region 2694 [Gene]
  • LOC129932721:ATAC-STARR-seq lymphoblastoid active region 2695 [Gene]
  • LOC129932573:ATAC-STARR-seq lymphoblastoid silent region 1844 [Gene]
  • LOC129932581:ATAC-STARR-seq lymphoblastoid silent region 1850 [Gene]
  • LOC129932583:ATAC-STARR-seq lymphoblastoid silent region 1851 [Gene]
  • LOC129932592:ATAC-STARR-seq lymphoblastoid silent region 1853 [Gene]
  • LOC129932598:ATAC-STARR-seq lymphoblastoid silent region 1854 [Gene]
  • LOC129932599:ATAC-STARR-seq lymphoblastoid silent region 1855 [Gene]
  • LOC129932607:ATAC-STARR-seq lymphoblastoid silent region 1857 [Gene]
  • LOC129932609:ATAC-STARR-seq lymphoblastoid silent region 1858 [Gene]
  • LOC129932611:ATAC-STARR-seq lymphoblastoid silent region 1859 [Gene]
  • LOC129932613:ATAC-STARR-seq lymphoblastoid silent region 1860 [Gene]
  • LOC129932615:ATAC-STARR-seq lymphoblastoid silent region 1861 [Gene]
  • LOC129932616:ATAC-STARR-seq lymphoblastoid silent region 1862 [Gene]
  • LOC129932622:ATAC-STARR-seq lymphoblastoid silent region 1863 [Gene]
  • LOC129932623:ATAC-STARR-seq lymphoblastoid silent region 1864 [Gene]
  • LOC129932624:ATAC-STARR-seq lymphoblastoid silent region 1867 [Gene]
  • LOC129932628:ATAC-STARR-seq lymphoblastoid silent region 1868 [Gene]
  • LOC129932633:ATAC-STARR-seq lymphoblastoid silent region 1870 [Gene]
  • LOC129932635:ATAC-STARR-seq lymphoblastoid silent region 1872 [Gene]
  • LOC129932636:ATAC-STARR-seq lymphoblastoid silent region 1873 [Gene]
  • LOC129932637:ATAC-STARR-seq lymphoblastoid silent region 1874 [Gene]
  • LOC129932638:ATAC-STARR-seq lymphoblastoid silent region 1875 [Gene]
  • LOC129932639:ATAC-STARR-seq lymphoblastoid silent region 1876 [Gene]
  • LOC129932640:ATAC-STARR-seq lymphoblastoid silent region 1877 [Gene]
  • LOC129932641:ATAC-STARR-seq lymphoblastoid silent region 1878 [Gene]
  • LOC129932642:ATAC-STARR-seq lymphoblastoid silent region 1879 [Gene]
  • LOC129932645:ATAC-STARR-seq lymphoblastoid silent region 1882 [Gene]
  • LOC129932650:ATAC-STARR-seq lymphoblastoid silent region 1883 [Gene]
  • LOC129932651:ATAC-STARR-seq lymphoblastoid silent region 1884 [Gene]
  • LOC129932653:ATAC-STARR-seq lymphoblastoid silent region 1885 [Gene]
  • LOC129932661:ATAC-STARR-seq lymphoblastoid silent region 1886 [Gene]
  • LOC129932665:ATAC-STARR-seq lymphoblastoid silent region 1887 [Gene]
  • LOC129932666:ATAC-STARR-seq lymphoblastoid silent region 1888 [Gene]
  • LOC129932667:ATAC-STARR-seq lymphoblastoid silent region 1889 [Gene]
  • LOC129932672:ATAC-STARR-seq lymphoblastoid silent region 1890 [Gene]
  • LOC129932673:ATAC-STARR-seq lymphoblastoid silent region 1891 [Gene]
  • LOC129932675:ATAC-STARR-seq lymphoblastoid silent region 1892 [Gene]
  • LOC129932678:ATAC-STARR-seq lymphoblastoid silent region 1893 [Gene]
  • LOC129932679:ATAC-STARR-seq lymphoblastoid silent region 1894 [Gene]
  • LOC129932681:ATAC-STARR-seq lymphoblastoid silent region 1895 [Gene]
  • LOC129932682:ATAC-STARR-seq lymphoblastoid silent region 1896 [Gene]
  • LOC129932684:ATAC-STARR-seq lymphoblastoid silent region 1897 [Gene]
  • LOC129932689:ATAC-STARR-seq lymphoblastoid silent region 1899 [Gene]
  • LOC129932690:ATAC-STARR-seq lymphoblastoid silent region 1900 [Gene]
  • LOC129932696:ATAC-STARR-seq lymphoblastoid silent region 1901 [Gene]
  • LOC129932697:ATAC-STARR-seq lymphoblastoid silent region 1902 [Gene]
  • LOC129932698:ATAC-STARR-seq lymphoblastoid silent region 1903 [Gene]
  • LOC129932700:ATAC-STARR-seq lymphoblastoid silent region 1904 [Gene]
  • LOC129932701:ATAC-STARR-seq lymphoblastoid silent region 1905 [Gene]
  • LOC129932702:ATAC-STARR-seq lymphoblastoid silent region 1906 [Gene]
  • LOC129932704:ATAC-STARR-seq lymphoblastoid silent region 1907 [Gene]
  • LOC129932705:ATAC-STARR-seq lymphoblastoid silent region 1908 [Gene]
  • LOC129932706:ATAC-STARR-seq lymphoblastoid silent region 1909 [Gene]
  • LOC129932710:ATAC-STARR-seq lymphoblastoid silent region 1913 [Gene]
  • LOC129932713:ATAC-STARR-seq lymphoblastoid silent region 1914 [Gene]
  • LOC129932714:ATAC-STARR-seq lymphoblastoid silent region 1916 [Gene]
  • LOC129932716:ATAC-STARR-seq lymphoblastoid silent region 1917 [Gene]
  • LOC129932717:ATAC-STARR-seq lymphoblastoid silent region 1918 [Gene]
  • LOC129932718:ATAC-STARR-seq lymphoblastoid silent region 1919 [Gene]
  • LOC129932720:ATAC-STARR-seq lymphoblastoid silent region 1920 [Gene]
  • LOC126806035:BRD4-independent group 4 enhancer GRCh37_chr1:226566810-226568009 [Gene]
  • LOC126806036:BRD4-independent group 4 enhancer GRCh37_chr1:227180293-227181492 [Gene]
  • CDC42BPA:CDC42 binding protein kinase alpha [Gene - OMIM - HGNC]
  • LOC126806026:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:223815955-223817154 [Gene]
  • LOC126806030:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:224920728-224921927 [Gene]
  • LOC126806034:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:225897976-225899175 [Gene]
  • LOC126806039:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136 [Gene]
  • CNIH3-AS1:CNIH3 antisense RNA 1 [Gene - HGNC]
  • CNIH3-AS2:CNIH3 antisense RNA 2 [Gene - HGNC]
  • LOC115804247:CRISPRi-validated cis-regulatory element chr1.11936 [Gene]
  • LOC115804248:CRISPRi-validated cis-regulatory element chr1.11973 [Gene]
  • ENAH:ENAH actin regulator [Gene - OMIM - HGNC]
  • FBXO28:F-box protein 28 [Gene - OMIM - HGNC]
  • H2AC25:H2A clustered histone 25 [Gene - OMIM - HGNC]
  • H2BC26:H2B clustered histone 26 [Gene - OMIM - HGNC]
  • H3-3A-DT:H3-3A divergent transcript [Gene - HGNC]
  • H3-3A:H3.3 histone A [Gene - OMIM - HGNC]
  • H3-4:H3.4 histone, cluster member [Gene - OMIM - HGNC]
  • LOC122152310:H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:226078433-226079150 and GRCh37_chr1:226079151-226079866 [Gene]
  • IBA57-DT:IBA57 divergent transcript [Gene - HGNC]
  • ITPKB-IT1:ITPKB intronic transcript 1 [Gene - HGNC]
  • LOC105373289:LOC105373289 [Gene]
  • LOC126806027:MED14-independent group 3 enhancer GRCh37_chr1:223894361-223895560 [Gene]
  • LOC126806028:MED14-independent group 3 enhancer GRCh37_chr1:223939947-223941146 [Gene]
  • LOC126806031:MED14-independent group 3 enhancer GRCh37_chr1:225046922-225048121 [Gene]
  • LOC126806032:MED14-independent group 3 enhancer GRCh37_chr1:225696090-225697289 [Gene]
  • LOC126806038:MED14-independent group 3 enhancer GRCh37_chr1:227719584-227720783 [Gene]
  • LOC129388757:MPRA-validated peak721 silencer [Gene]
  • LOC129388758:MPRA-validated peak726 silencer [Gene]
  • LOC129388759:MPRA-validated peak727 silencer [Gene]
  • LOC129388760:MPRA-validated peak731 silencer [Gene]
  • LOC129388761:MPRA-validated peak732 silencer [Gene]
  • LOC129388762:MPRA-validated peak735 silencer [Gene]
  • LOC129388763:MPRA-validated peak736 silencer [Gene]
  • LOC129388764:MPRA-validated peak738 silencer [Gene]
  • LOC129388765:MPRA-validated peak741 silencer [Gene]
  • LOC129388766:MPRA-validated peak744 silencer [Gene]
  • LOC129388767:MPRA-validated peak745 silencer [Gene]
  • LOC129388768:MPRA-validated peak746 silencer [Gene]
  • LOC129388769:MPRA-validated peak747 silencer [Gene]
  • LOC129388770:MPRA-validated peak748 silencer [Gene]
  • MIXL1:Mix paired-like homeobox [Gene - OMIM - HGNC]
  • LOC132088666:Neanderthal introgressed variant-containing enhancer experimental_5382 [Gene]
  • LOC132088667:Neanderthal introgressed variant-containing enhancer experimental_5412 [Gene]
  • LOC132088670:Neanderthal introgressed variant-containing enhancer experimental_5491 [Gene]
  • LOC132088671:Neanderthal introgressed variant-containing enhancer experimental_5624 [Gene]
  • LOC132088673:Neanderthal introgressed variant-containing enhancer experimental_5770 [Gene]
  • LOC132088674:Neanderthal introgressed variant-containing enhancer experimental_5830 [Gene]
  • OBSCN-AS1:OBSCN antisense RNA 1 [Gene - HGNC]
  • LOC126806029:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:224075566-224076765 [Gene]
  • LOC126806033:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:225887458-225888657 [Gene]
  • LOC126806037:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:227583939-227585138 [Gene]
  • SDE2:SDE2 telomere maintenance homolog [Gene - OMIM - HGNC]
  • LOC122152314:Sharpr-MPRA regulatory region 1086 [Gene]
  • LOC112577543:Sharpr-MPRA regulatory region 12248 [Gene]
  • LOC112577545:Sharpr-MPRA regulatory region 12356 [Gene]
  • LOC112577544:Sharpr-MPRA regulatory region 12366 [Gene]
  • LOC122152308:Sharpr-MPRA regulatory region 1236 [Gene]
  • LOC122152316:Sharpr-MPRA regulatory region 12629 [Gene]
  • LOC122152309:Sharpr-MPRA regulatory region 13241 [Gene]
  • LOC122152313:Sharpr-MPRA regulatory region 13952 [Gene]
  • LOC122152305:Sharpr-MPRA regulatory region 14236 [Gene]
  • LOC122152306:Sharpr-MPRA regulatory region 3187 [Gene]
  • LOC112577546:Sharpr-MPRA regulatory region 4086 [Gene]
  • LOC122152312:Sharpr-MPRA regulatory region 4175 [Gene]
  • LOC112577547:Sharpr-MPRA regulatory region 4602 [Gene]
  • LOC112577548:Sharpr-MPRA regulatory region 4759 [Gene]
  • LOC120908911:Sharpr-MPRA regulatory region 5028 [Gene]
  • LOC121725075:Sharpr-MPRA regulatory region 7345 [Gene]
  • LOC122152307:Sharpr-MPRA regulatory region 9300 [Gene]
  • LOC122152315:Sharpr-MPRA regulatory region 9391 [Gene]
  • LOC122152311:Sharpr-MPRA regulatory region 9906 [Gene]
  • LOC110121307:VISTA enhancer hs2374 [Gene]
  • WDR26:WD repeat domain 26 [Gene - OMIM - HGNC]
  • WNT3A:Wnt family member 3A [Gene - OMIM - HGNC]
  • WNT9A:Wnt family member 9A [Gene - OMIM - HGNC]
  • ACBD3:acyl-CoA binding domain containing 3 [Gene - OMIM - HGNC]
  • BTNL10:butyrophilin like 10 [Gene - HGNC]
  • CAPN2:calpain 2 [Gene - OMIM - HGNC]
  • CAPN8:calpain 8 [Gene - OMIM - HGNC]
  • C1orf35:chromosome 1 open reading frame 35 [Gene - HGNC]
  • COQ8A:coenzyme Q8A [Gene - OMIM - HGNC]
  • CCDC185:coiled-coil domain containing 185 [Gene - HGNC]
  • CNIH3:cornichon family AMPA receptor auxiliary protein 3 [Gene - HGNC]
  • CNIH4:cornichon family member 4 [Gene - OMIM - HGNC]
  • DEGS1:delta 4-desaturase, sphingolipid 1 [Gene - OMIM - HGNC]
  • DNAH14:dynein axonemal heavy chain 14 [Gene - OMIM - HGNC]
  • EPHX1:epoxide hydrolase 1 [Gene - OMIM - HGNC]
  • GJC2:gap junction protein gamma 2 [Gene - OMIM - HGNC]
  • GUK1:guanylate kinase 1 [Gene - OMIM - HGNC]
  • ITPKB:inositol-trisphosphate 3-kinase B [Gene - OMIM - HGNC]
  • IBA57:iron-sulfur cluster assembly factor IBA57 [Gene - OMIM - HGNC]
  • JMJD4:jumonji domain containing 4 [Gene - HGNC]
  • LBR:lamin B receptor [Gene - OMIM - HGNC]
  • LEFTY1:left-right determination factor 1 [Gene - OMIM - HGNC]
  • LEFTY2:left-right determination factor 2 [Gene - OMIM - HGNC]
  • LIN9:lin-9 DREAM MuvB core complex component [Gene - OMIM - HGNC]
  • LINC01641:long intergenic non-protein coding RNA 1641 [Gene - HGNC]
  • LINC01703:long intergenic non-protein coding RNA 1703 [Gene - HGNC]
  • LINC02765:long intergenic non-protein coding RNA 2765 [Gene - HGNC]
  • LINC02809:long intergenic non-protein coding RNA 2809 [Gene - HGNC]
  • LOC128772240:melanoma risk locus-associated MPRA allelic enhancer 1:226596389 [Gene]
  • LOC128772241:melanoma risk locus-associated MPRA allelic enhancer 1:226598652 [Gene]
  • LOC128772242:melanoma risk locus-associated MPRA allelic enhancer 1:226602286 [Gene]
  • LOC128772243:melanoma risk locus-associated MPRA allelic enhancer 1:226602556 [Gene]
  • LOC128772244:melanoma risk locus-associated MPRA allelic enhancer 1:226603897 [Gene]
  • LOC128772245:melanoma risk locus-associated MPRA allelic enhancer 1:226605227 [Gene]
  • MIR320B2:microRNA 320b-2 [Gene - HGNC]
  • MIR3620:microRNA 3620 [Gene - HGNC]
  • MIR4666A:microRNA 4666a [Gene - HGNC]
  • MIR4742:microRNA 4742 [Gene - HGNC]
  • MIR5008:microRNA 5008 [Gene - HGNC]
  • MIR6741:microRNA 6741 [Gene - HGNC]
  • MIR6742:microRNA 6742 [Gene - HGNC]
  • MRPL55:mitochondrial ribosomal protein L55 [Gene - OMIM - HGNC]
  • LOC120807606:negCOR silencer S7 [Gene]
  • NVL:nuclear VCP like [Gene - OMIM - HGNC]
  • OBSCN:obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Gene - OMIM - HGNC]
  • PARP1:poly(ADP-ribose) polymerase 1 [Gene - OMIM - HGNC]
  • PSEN2:presenilin 2 [Gene - OMIM - HGNC]
  • PYCR2:pyrroline-5-carboxylate reductase 2 [Gene - OMIM - HGNC]
  • RNF187:ring finger protein 187 [Gene - OMIM - HGNC]
  • PRSS38:serine protease 38 [Gene - HGNC]
  • SRP9:signal recognition particle 9 [Gene - OMIM - HGNC]
  • STUM:stum, mechanosensory transduction mediator homolog [Gene - HGNC]
  • SUSD4:sushi domain containing 4 [Gene - OMIM - HGNC]
  • SNAP47:synaptosome associated protein 47 [Gene - OMIM - HGNC]
  • TMEM63A:transmembrane protein 63A [Gene - OMIM - HGNC]
  • TRIM11:tripartite motif containing 11 [Gene - OMIM - HGNC]
  • TRIM17:tripartite motif containing 17 [Gene - OMIM - HGNC]
  • TP53BP2:tumor protein p53 binding protein 2 [Gene - OMIM - HGNC]
  • LOC101927143:uncharacterized LOC101927143 [Gene]
  • LOC101927164:uncharacterized LOC101927164 [Gene]
  • LOC107985355:uncharacterized LOC107985355 [Gene]
  • ZNF678:zinc finger protein 678 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q41-42.13
Genomic location:
Preferred name:
GRCh38/hg38 1q41-42.13(chr1:223347693-228556332)x1
HGVS:
  • NC_000001.11:g.(?_223347693)_(228556332_?)del
  • NC_000001.10:g.(?_223521035)_(228744033_?)del
  • NC_000001.9:g.(?_221587658)_(226810656_?)del
Links:
dbVar: nssv582564; dbVar: nsv533961
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
SCV000176733ISCA site 1

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

PubMed (1)
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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, SCV000176733.4

#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