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GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)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:
RCV000135796.5

Allele description [Variation Report for GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1]

GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1

Genes:
  • ARF1:ADP ribosylation factor 1 [Gene - OMIM - HGNC]
  • ARV1:ARV1 homolog, fatty acid homeostasis modulator [Gene - OMIM - HGNC]
  • 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]
  • LOC129932723:ATAC-STARR-seq lymphoblastoid active region 2698 [Gene]
  • LOC129932724:ATAC-STARR-seq lymphoblastoid active region 2699 [Gene]
  • LOC129932731:ATAC-STARR-seq lymphoblastoid active region 2702 [Gene]
  • LOC129932733:ATAC-STARR-seq lymphoblastoid active region 2703 [Gene]
  • LOC129932736:ATAC-STARR-seq lymphoblastoid active region 2704 [Gene]
  • LOC129932737:ATAC-STARR-seq lymphoblastoid active region 2705 [Gene]
  • LOC129932740:ATAC-STARR-seq lymphoblastoid active region 2706 [Gene]
  • LOC129932741:ATAC-STARR-seq lymphoblastoid active region 2707 [Gene]
  • LOC129932742:ATAC-STARR-seq lymphoblastoid active region 2708 [Gene]
  • LOC129932745:ATAC-STARR-seq lymphoblastoid active region 2709 [Gene]
  • LOC129932746:ATAC-STARR-seq lymphoblastoid active region 2711 [Gene]
  • LOC129932747:ATAC-STARR-seq lymphoblastoid active region 2712 [Gene]
  • LOC129932748:ATAC-STARR-seq lymphoblastoid active region 2713 [Gene]
  • LOC129932749:ATAC-STARR-seq lymphoblastoid active region 2714 [Gene]
  • LOC129932750:ATAC-STARR-seq lymphoblastoid active region 2715 [Gene]
  • LOC129932751:ATAC-STARR-seq lymphoblastoid active region 2716 [Gene]
  • LOC129932752:ATAC-STARR-seq lymphoblastoid active region 2717 [Gene]
  • LOC129932754:ATAC-STARR-seq lymphoblastoid active region 2718 [Gene]
  • LOC129932756:ATAC-STARR-seq lymphoblastoid active region 2719 [Gene]
  • LOC129932758:ATAC-STARR-seq lymphoblastoid active region 2720 [Gene]
  • LOC129932761:ATAC-STARR-seq lymphoblastoid active region 2721 [Gene]
  • LOC129932764:ATAC-STARR-seq lymphoblastoid active region 2722 [Gene]
  • LOC129932765:ATAC-STARR-seq lymphoblastoid active region 2723 [Gene]
  • LOC129932767:ATAC-STARR-seq lymphoblastoid active region 2725 [Gene]
  • LOC129932768:ATAC-STARR-seq lymphoblastoid active region 2729 [Gene]
  • LOC129932769:ATAC-STARR-seq lymphoblastoid active region 2730 [Gene]
  • LOC129932770:ATAC-STARR-seq lymphoblastoid active region 2731 [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]
  • LOC129932722:ATAC-STARR-seq lymphoblastoid silent region 1924 [Gene]
  • LOC129932725:ATAC-STARR-seq lymphoblastoid silent region 1925 [Gene]
  • LOC129932726:ATAC-STARR-seq lymphoblastoid silent region 1926 [Gene]
  • LOC129932727:ATAC-STARR-seq lymphoblastoid silent region 1927 [Gene]
  • LOC129932728:ATAC-STARR-seq lymphoblastoid silent region 1928 [Gene]
  • LOC129932729:ATAC-STARR-seq lymphoblastoid silent region 1929 [Gene]
  • LOC129932730:ATAC-STARR-seq lymphoblastoid silent region 1930 [Gene]
  • LOC129932732:ATAC-STARR-seq lymphoblastoid silent region 1931 [Gene]
  • LOC129932734:ATAC-STARR-seq lymphoblastoid silent region 1932 [Gene]
  • LOC129932735:ATAC-STARR-seq lymphoblastoid silent region 1933 [Gene]
  • LOC129932738:ATAC-STARR-seq lymphoblastoid silent region 1934 [Gene]
  • LOC129932739:ATAC-STARR-seq lymphoblastoid silent region 1935 [Gene]
  • LOC129932743:ATAC-STARR-seq lymphoblastoid silent region 1936 [Gene]
  • LOC129932744:ATAC-STARR-seq lymphoblastoid silent region 1937 [Gene]
  • LOC129932753:ATAC-STARR-seq lymphoblastoid silent region 1939 [Gene]
  • LOC129932755:ATAC-STARR-seq lymphoblastoid silent region 1941 [Gene]
  • LOC129932757:ATAC-STARR-seq lymphoblastoid silent region 1942 [Gene]
  • LOC129932759:ATAC-STARR-seq lymphoblastoid silent region 1944 [Gene]
  • LOC129932760:ATAC-STARR-seq lymphoblastoid silent region 1945 [Gene]
  • LOC129932762:ATAC-STARR-seq lymphoblastoid silent region 1947 [Gene]
  • LOC129932763:ATAC-STARR-seq lymphoblastoid silent region 1948 [Gene]
  • LOC129932766:ATAC-STARR-seq lymphoblastoid silent region 1949 [Gene]
  • LOC129932771:ATAC-STARR-seq lymphoblastoid silent region 1954 [Gene]
  • LOC129932772:ATAC-STARR-seq lymphoblastoid silent region 1955 [Gene]
  • LOC129932773:ATAC-STARR-seq lymphoblastoid silent region 1956 [Gene]
  • LOC129932774:ATAC-STARR-seq lymphoblastoid silent region 1957 [Gene]
  • LOC129932775:ATAC-STARR-seq lymphoblastoid silent region 1958 [Gene]
  • ABCB10:ATP binding cassette subfamily B member 10 [Gene - OMIM - HGNC]
  • LOC126806035:BRD4-independent group 4 enhancer GRCh37_chr1:226566810-226568009 [Gene]
  • LOC126806036:BRD4-independent group 4 enhancer GRCh37_chr1:227180293-227181492 [Gene]
  • LOC126806041:BRD4-independent group 4 enhancer GRCh37_chr1:230248997-230250196 [Gene]
  • CDC42BPA:CDC42 binding protein kinase alpha [Gene - OMIM - HGNC]
  • LOC126806039:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:228284937-228286136 [Gene]
  • LOC126806040:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:230240174-230241373 [Gene]
  • LOC126806043:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:231647424-231648623 [Gene]
  • LOC126806045:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:232179763-232180962 [Gene]
  • LOC115804249:CRISPRi-validated cis-regulatory element chr1.12443 [Gene]
  • LOC115804250:CRISPRi-validated cis-regulatory element chr1.12444 [Gene]
  • LOC115804251:CRISPRi-validated cis-regulatory element chr1.12445 [Gene]
  • LOC115804252:CRISPRi-validated cis-regulatory element chr1.12446 [Gene]
  • DISC1-IT1:DISC1 intronic transcript 1 [Gene - HGNC]
  • DISC1:DISC1 scaffold protein [Gene - OMIM - HGNC]
  • H2AC25:H2A clustered histone 25 [Gene - OMIM - HGNC]
  • H2BC26:H2B clustered histone 26 [Gene - OMIM - HGNC]
  • H3-4:H3.4 histone, cluster member [Gene - OMIM - HGNC]
  • LOC112577554:H3K27ac-H3K4me1 hESC enhancers GRCh37_chr1:230468147-230468791 and GRCh37_chr1:230468792-230469436 [Gene]
  • IBA57-DT:IBA57 divergent transcript [Gene - HGNC]
  • ITPKB-IT1:ITPKB intronic transcript 1 [Gene - HGNC]
  • LOC105373289:LOC105373289 [Gene]
  • LOC126806038:MED14-independent group 3 enhancer GRCh37_chr1:227719584-227720783 [Gene]
  • LOC126806042:MED14-independent group 3 enhancer GRCh37_chr1:230990988-230992187 [Gene]
  • LOC126806044:MED14-independent group 3 enhancer GRCh37_chr1:231663972-231665171 [Gene]
  • LOC126806046:MED14-independent group 3 enhancer GRCh37_chr1:232884037-232885236 [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]
  • LOC129388771:MPRA-validated peak749 silencer [Gene]
  • LOC129388772:MPRA-validated peak753 silencer [Gene]
  • LOC129388773:MPRA-validated peak754 silencer [Gene]
  • LOC129388774:MPRA-validated peak757 silencer [Gene]
  • LOC129388775:MPRA-validated peak762 silencer [Gene]
  • LOC129388776:MPRA-validated peak764 silencer [Gene]
  • LOC129388777:MPRA-validated peak765 silencer [Gene]
  • LOC129388778:MPRA-validated peak767 silencer [Gene]
  • LOC129388779:MPRA-validated peak768 silencer [Gene]
  • MIXL1:Mix paired-like homeobox [Gene - OMIM - HGNC]
  • NUP133-DT:NUP133 divergent transcript [Gene - HGNC]
  • LOC132088676:Neanderthal introgressed variant-containing enhancer experimental_5949 [Gene]
  • LOC132088677:Neanderthal introgressed variant-containing enhancer experimental_5966 [Gene]
  • LOC132088678:Neanderthal introgressed variant-containing enhancer experimental_5991 [Gene]
  • LOC132088679:Neanderthal introgressed variant-containing enhancer experimental_6018 [Gene]
  • LOC132090677:Neanderthal introgressed variant-containing enhancer experimental_6114 [Gene]
  • LOC132088680:Neanderthal introgressed variant-containing enhancer experimental_6136 [Gene]
  • LOC132088681:Neanderthal introgressed variant-containing enhancer experimental_6156 [Gene]
  • OBSCN-AS1:OBSCN antisense RNA 1 [Gene - HGNC]
  • LOC126806037:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:227583939-227585138 [Gene]
  • RAB4A-AS1:RAB4A antisense RNA 1 [Gene - HGNC]
  • RAB4A:RAB4A, member RAS oncogene family [Gene - OMIM - HGNC]
  • RNA5S10:RNA, 5S ribosomal 10 [Gene - HGNC]
  • RNA5S11:RNA, 5S ribosomal 11 [Gene - HGNC]
  • RNA5S12:RNA, 5S ribosomal 12 [Gene - HGNC]
  • RNA5S13:RNA, 5S ribosomal 13 [Gene - HGNC]
  • RNA5S14:RNA, 5S ribosomal 14 [Gene - HGNC]
  • RNA5S15:RNA, 5S ribosomal 15 [Gene - HGNC]
  • RNA5S16:RNA, 5S ribosomal 16 [Gene - HGNC]
  • RNA5S17:RNA, 5S ribosomal 17 [Gene - HGNC]
  • RNA5S1:RNA, 5S ribosomal 1 [Gene - HGNC]
  • RNA5S2:RNA, 5S ribosomal 2 [Gene - HGNC]
  • RNA5S3:RNA, 5S ribosomal 3 [Gene - HGNC]
  • RNA5S4:RNA, 5S ribosomal 4 [Gene - HGNC]
  • RNA5S5:RNA, 5S ribosomal 5 [Gene - HGNC]
  • RNA5S6:RNA, 5S ribosomal 6 [Gene - HGNC]
  • RNA5S7:RNA, 5S ribosomal 7 [Gene - HGNC]
  • RNA5S8:RNA, 5S ribosomal 8 [Gene - HGNC]
  • RNA5S9:RNA, 5S ribosomal 9 [Gene - HGNC]
  • SPHAR:S-phase response (cyclin related) [Gene - HGNC]
  • LOC122152338:Sharpr-MPRA regulatory region 1023 [Gene]
  • LOC122152318:Sharpr-MPRA regulatory region 10577 [Gene]
  • LOC122152314:Sharpr-MPRA regulatory region 1086 [Gene]
  • LOC122152319:Sharpr-MPRA regulatory region 11146 [Gene]
  • LOC113939987:Sharpr-MPRA regulatory region 11409 [Gene]
  • LOC122152336:Sharpr-MPRA regulatory region 11665 [Gene]
  • LOC112577552:Sharpr-MPRA regulatory region 1224 [Gene]
  • LOC122152332:Sharpr-MPRA regulatory region 12256 [Gene]
  • LOC120908914:Sharpr-MPRA regulatory region 12306 [Gene]
  • LOC122152322:Sharpr-MPRA regulatory region 12340 [Gene]
  • LOC112577545:Sharpr-MPRA regulatory region 12356 [Gene]
  • LOC122152316:Sharpr-MPRA regulatory region 12629 [Gene]
  • LOC122152320:Sharpr-MPRA regulatory region 13048 [Gene]
  • LOC122152313:Sharpr-MPRA regulatory region 13952 [Gene]
  • LOC122152317:Sharpr-MPRA regulatory region 14212 [Gene]
  • LOC122152321:Sharpr-MPRA regulatory region 2214 [Gene]
  • LOC122152334:Sharpr-MPRA regulatory region 2465 [Gene]
  • LOC120908913:Sharpr-MPRA regulatory region 2560 [Gene]
  • LOC120908912:Sharpr-MPRA regulatory region 2676 [Gene]
  • LOC122152333:Sharpr-MPRA regulatory region 2982 [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]
  • LOC122152335:Sharpr-MPRA regulatory region 4964 [Gene]
  • LOC121725075:Sharpr-MPRA regulatory region 7345 [Gene]
  • LOC122152337:Sharpr-MPRA regulatory region 8140 [Gene]
  • LOC122152315:Sharpr-MPRA regulatory region 9391 [Gene]
  • LOC122152311:Sharpr-MPRA regulatory region 9906 [Gene]
  • SPRTN:SprT-like N-terminal domain [Gene - OMIM - HGNC]
  • TAF5L:TATA-box binding protein associated factor 5 like [Gene - HGNC]
  • TRIM67-AS1:TRIM67 antisense RNA 1 [Gene - HGNC]
  • TSNAX-DISC1:TSNAX-DISC1 readthrough (NMD candidate) [Gene - HGNC]
  • URB2:URB2 ribosome biogenesis homolog [Gene - OMIM - HGNC]
  • LOC110121205:VISTA enhancer hs1766 [Gene]
  • LOC110121263:VISTA enhancer hs2133 [Gene]
  • WNT3A:Wnt family member 3A [Gene - OMIM - HGNC]
  • WNT9A:Wnt family member 9A [Gene - OMIM - HGNC]
  • ACTA1:actin alpha 1, skeletal muscle [Gene - OMIM - HGNC]
  • ACBD3:acyl-CoA binding domain containing 3 [Gene - OMIM - HGNC]
  • AGT:angiotensinogen [Gene - OMIM - HGNC]
  • BTNL10:butyrophilin like 10 [Gene - HGNC]
  • CAPN9:calpain 9 [Gene - OMIM - HGNC]
  • CCSAP:centriole, cilia and spindle associated protein [Gene - OMIM - HGNC]
  • C1orf131:chromosome 1 open reading frame 131 [Gene - HGNC]
  • C1orf198:chromosome 1 open reading frame 198 [Gene - HGNC]
  • C1orf35:chromosome 1 open reading frame 35 [Gene - HGNC]
  • COQ8A:coenzyme Q8A [Gene - OMIM - HGNC]
  • COG2:component of oligomeric golgi complex 2 [Gene - OMIM - HGNC]
  • DISC2:disrupted in schizophrenia 2 [Gene - OMIM - HGNC]
  • EGLN1:egl-9 family hypoxia inducible factor 1 [Gene - OMIM - HGNC]
  • EXOC8:exocyst complex component 8 [Gene - OMIM - HGNC]
  • FAM89A:family with sequence similarity 89 member A [Gene - HGNC]
  • GJC2:gap junction protein gamma 2 [Gene - OMIM - HGNC]
  • GNPAT:glyceronephosphate O-acyltransferase [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]
  • LIN9:lin-9 DREAM MuvB core complex component [Gene - OMIM - HGNC]
  • LINC01641:long intergenic non-protein coding RNA 1641 [Gene - HGNC]
  • LINC01682:long intergenic non-protein coding RNA 1682 [Gene - HGNC]
  • LINC01736:long intergenic non-protein coding RNA 1736 [Gene - HGNC]
  • LINC01737:long intergenic non-protein coding RNA 1737 [Gene - HGNC]
  • LINC01744:long intergenic non-protein coding RNA 1744 [Gene - HGNC]
  • LINC01745:long intergenic non-protein coding RNA 1745 [Gene - HGNC]
  • LINC02809:long intergenic non-protein coding RNA 2809 [Gene - HGNC]
  • LINC02814:long intergenic non-protein coding RNA 2814 [Gene - HGNC]
  • LINC02815:long intergenic non-protein coding RNA 2815 [Gene - HGNC]
  • LINC00582:long intergenic non-protein coding RNA 582 [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]
  • MIR1182:microRNA 1182 [Gene - HGNC]
  • MIR3620:microRNA 3620 [Gene - HGNC]
  • MIR4666A:microRNA 4666a [Gene - HGNC]
  • MIR5008:microRNA 5008 [Gene - HGNC]
  • MIR6742:microRNA 6742 [Gene - HGNC]
  • MAP10:microtubule associated protein 10 [Gene - OMIM - HGNC]
  • MRPL55:mitochondrial ribosomal protein L55 [Gene - OMIM - HGNC]
  • LOC120807606:negCOR silencer S7 [Gene]
  • NUP133:nucleoporin 133 [Gene - OMIM - HGNC]
  • OBSCN:obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF [Gene - OMIM - HGNC]
  • PGBD5:piggyBac transposable element derived 5 [Gene - OMIM - HGNC]
  • PARP1:poly(ADP-ribose) polymerase 1 [Gene - OMIM - HGNC]
  • GALNT2:polypeptide N-acetylgalactosaminyltransferase 2 [Gene - OMIM - HGNC]
  • PSEN2:presenilin 2 [Gene - OMIM - HGNC]
  • RHOU:ras homolog family member U [Gene - OMIM - HGNC]
  • RNF187:ring finger protein 187 [Gene - OMIM - HGNC]
  • PRSS38:serine protease 38 [Gene - HGNC]
  • SIPA1L2:signal induced proliferation associated 1 like 2 [Gene - OMIM - HGNC]
  • STUM:stum, mechanosensory transduction mediator homolog [Gene - HGNC]
  • SNAP47:synaptosome associated protein 47 [Gene - OMIM - HGNC]
  • TTC13:tetratricopeptide repeat domain 13 [Gene - HGNC]
  • TSNAX:translin associated factor X [Gene - OMIM - HGNC]
  • TMEM78:transmembrane protein 78 [Gene - HGNC]
  • TRIM11:tripartite motif containing 11 [Gene - OMIM - HGNC]
  • TRIM17:tripartite motif containing 17 [Gene - OMIM - HGNC]
  • TRIM67:tripartite motif containing 67 [Gene - OMIM - HGNC]
  • LOC101927604:uncharacterized LOC101927604 [Gene]
  • LOC107985355:uncharacterized LOC107985355 [Gene]
  • LOC122526782:uncharacterized LOC122526782 [Gene]
  • ZNF678:zinc finger protein 678 [Gene - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1q42.12-42.2
Genomic location:
Preferred name:
GRCh38/hg38 1q42.12-42.2(chr1:226185124-232872488)x1
HGVS:
  • NC_000001.11:g.(?_226185124)_(232872488_?)del
  • NC_000001.10:g.(?_226372825)_(233008234_?)del
  • NC_000001.9:g.(?_224439448)_(231074857_?)del
Links:
dbVar: nssv582731; dbVar: nsv533061
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
SCV000175785ISCA site 1

See additional submitters

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

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

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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, SCV000175785.4

#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