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GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)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:
RCV000136647.6

Allele description [Variation Report for GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1]

GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1

Genes:
  • ARL11:ADP ribosylation factor like GTPase 11 [Gene - OMIM - HGNC]
  • ALG11:ALG11 alpha-1,2-mannosyltransferase [Gene - OMIM - HGNC]
  • LOC130009745:ATAC-STARR-seq lymphoblastoid active region 7717 [Gene]
  • LOC130009746:ATAC-STARR-seq lymphoblastoid active region 7718 [Gene]
  • LOC130009747:ATAC-STARR-seq lymphoblastoid active region 7719 [Gene]
  • LOC130009749:ATAC-STARR-seq lymphoblastoid active region 7723 [Gene]
  • LOC130009750:ATAC-STARR-seq lymphoblastoid active region 7724 [Gene]
  • LOC130009753:ATAC-STARR-seq lymphoblastoid active region 7725 [Gene]
  • LOC130009754:ATAC-STARR-seq lymphoblastoid active region 7726 [Gene]
  • LOC130009755:ATAC-STARR-seq lymphoblastoid active region 7727 [Gene]
  • LOC130009756:ATAC-STARR-seq lymphoblastoid active region 7728 [Gene]
  • LOC130009757:ATAC-STARR-seq lymphoblastoid active region 7729 [Gene]
  • LOC130009758:ATAC-STARR-seq lymphoblastoid active region 7730 [Gene]
  • LOC130009760:ATAC-STARR-seq lymphoblastoid active region 7731 [Gene]
  • LOC130009761:ATAC-STARR-seq lymphoblastoid active region 7732 [Gene]
  • LOC130009762:ATAC-STARR-seq lymphoblastoid active region 7733 [Gene]
  • LOC130009765:ATAC-STARR-seq lymphoblastoid active region 7734 [Gene]
  • LOC130009766:ATAC-STARR-seq lymphoblastoid active region 7735 [Gene]
  • LOC130009767:ATAC-STARR-seq lymphoblastoid active region 7736 [Gene]
  • LOC130009768:ATAC-STARR-seq lymphoblastoid active region 7737 [Gene]
  • LOC130009769:ATAC-STARR-seq lymphoblastoid active region 7738 [Gene]
  • LOC130009770:ATAC-STARR-seq lymphoblastoid active region 7739 [Gene]
  • LOC130009771:ATAC-STARR-seq lymphoblastoid active region 7741 [Gene]
  • LOC130009772:ATAC-STARR-seq lymphoblastoid active region 7742 [Gene]
  • LOC130009773:ATAC-STARR-seq lymphoblastoid active region 7743 [Gene]
  • LOC130009774:ATAC-STARR-seq lymphoblastoid active region 7744 [Gene]
  • LOC130009776:ATAC-STARR-seq lymphoblastoid active region 7746 [Gene]
  • LOC130009777:ATAC-STARR-seq lymphoblastoid active region 7748 [Gene]
  • LOC130009779:ATAC-STARR-seq lymphoblastoid active region 7749 [Gene]
  • LOC130009781:ATAC-STARR-seq lymphoblastoid active region 7750 [Gene]
  • LOC130009782:ATAC-STARR-seq lymphoblastoid active region 7752 [Gene]
  • LOC130009783:ATAC-STARR-seq lymphoblastoid active region 7753 [Gene]
  • LOC130009785:ATAC-STARR-seq lymphoblastoid active region 7755 [Gene]
  • LOC130009787:ATAC-STARR-seq lymphoblastoid active region 7756 [Gene]
  • LOC130009789:ATAC-STARR-seq lymphoblastoid active region 7757 [Gene]
  • LOC130009791:ATAC-STARR-seq lymphoblastoid active region 7758 [Gene]
  • LOC130009792:ATAC-STARR-seq lymphoblastoid active region 7759 [Gene]
  • LOC130009799:ATAC-STARR-seq lymphoblastoid active region 7760 [Gene]
  • LOC130009801:ATAC-STARR-seq lymphoblastoid active region 7761 [Gene]
  • LOC130009802:ATAC-STARR-seq lymphoblastoid active region 7762 [Gene]
  • LOC130009803:ATAC-STARR-seq lymphoblastoid active region 7763 [Gene]
  • LOC130009804:ATAC-STARR-seq lymphoblastoid active region 7764 [Gene]
  • LOC130009805:ATAC-STARR-seq lymphoblastoid active region 7765 [Gene]
  • LOC130009806:ATAC-STARR-seq lymphoblastoid active region 7766 [Gene]
  • LOC130009807:ATAC-STARR-seq lymphoblastoid active region 7767 [Gene]
  • LOC130009808:ATAC-STARR-seq lymphoblastoid active region 7768 [Gene]
  • LOC130009812:ATAC-STARR-seq lymphoblastoid active region 7770 [Gene]
  • LOC130009813:ATAC-STARR-seq lymphoblastoid active region 7771 [Gene]
  • LOC130009815:ATAC-STARR-seq lymphoblastoid active region 7772 [Gene]
  • LOC130009822:ATAC-STARR-seq lymphoblastoid active region 7773 [Gene]
  • LOC130009825:ATAC-STARR-seq lymphoblastoid active region 7774 [Gene]
  • LOC130009827:ATAC-STARR-seq lymphoblastoid active region 7776 [Gene]
  • LOC130009828:ATAC-STARR-seq lymphoblastoid active region 7777 [Gene]
  • LOC130009829:ATAC-STARR-seq lymphoblastoid active region 7778 [Gene]
  • LOC130009831:ATAC-STARR-seq lymphoblastoid active region 7779 [Gene]
  • LOC130009832:ATAC-STARR-seq lymphoblastoid active region 7780 [Gene]
  • LOC130009833:ATAC-STARR-seq lymphoblastoid active region 7781 [Gene]
  • LOC130009835:ATAC-STARR-seq lymphoblastoid active region 7782 [Gene]
  • LOC130009836:ATAC-STARR-seq lymphoblastoid active region 7783 [Gene]
  • LOC130009837:ATAC-STARR-seq lymphoblastoid active region 7784 [Gene]
  • LOC130009841:ATAC-STARR-seq lymphoblastoid active region 7785 [Gene]
  • LOC130009842:ATAC-STARR-seq lymphoblastoid active region 7786 [Gene]
  • LOC130009845:ATAC-STARR-seq lymphoblastoid active region 7787 [Gene]
  • LOC130009846:ATAC-STARR-seq lymphoblastoid active region 7788 [Gene]
  • LOC130009847:ATAC-STARR-seq lymphoblastoid active region 7789 [Gene]
  • LOC130009850:ATAC-STARR-seq lymphoblastoid active region 7790 [Gene]
  • LOC130009851:ATAC-STARR-seq lymphoblastoid active region 7791 [Gene]
  • LOC130009852:ATAC-STARR-seq lymphoblastoid active region 7792 [Gene]
  • LOC130009853:ATAC-STARR-seq lymphoblastoid active region 7793 [Gene]
  • LOC130009854:ATAC-STARR-seq lymphoblastoid active region 7794 [Gene]
  • LOC130009855:ATAC-STARR-seq lymphoblastoid active region 7795 [Gene]
  • LOC130009856:ATAC-STARR-seq lymphoblastoid active region 7796 [Gene]
  • LOC130009857:ATAC-STARR-seq lymphoblastoid active region 7797 [Gene]
  • LOC130009858:ATAC-STARR-seq lymphoblastoid active region 7798 [Gene]
  • LOC130009859:ATAC-STARR-seq lymphoblastoid active region 7799 [Gene]
  • LOC130009861:ATAC-STARR-seq lymphoblastoid active region 7800 [Gene]
  • LOC130009863:ATAC-STARR-seq lymphoblastoid active region 7803 [Gene]
  • LOC130009864:ATAC-STARR-seq lymphoblastoid active region 7804 [Gene]
  • LOC130009865:ATAC-STARR-seq lymphoblastoid active region 7805 [Gene]
  • LOC130009866:ATAC-STARR-seq lymphoblastoid active region 7806 [Gene]
  • LOC130009867:ATAC-STARR-seq lymphoblastoid active region 7807 [Gene]
  • LOC130009870:ATAC-STARR-seq lymphoblastoid active region 7809 [Gene]
  • LOC130009872:ATAC-STARR-seq lymphoblastoid active region 7810 [Gene]
  • LOC130009873:ATAC-STARR-seq lymphoblastoid active region 7811 [Gene]
  • LOC130009874:ATAC-STARR-seq lymphoblastoid active region 7812 [Gene]
  • LOC130009875:ATAC-STARR-seq lymphoblastoid active region 7813 [Gene]
  • LOC130009877:ATAC-STARR-seq lymphoblastoid active region 7814 [Gene]
  • LOC130009878:ATAC-STARR-seq lymphoblastoid active region 7816 [Gene]
  • LOC130009881:ATAC-STARR-seq lymphoblastoid active region 7817 [Gene]
  • LOC130009882:ATAC-STARR-seq lymphoblastoid active region 7818 [Gene]
  • LOC130009883:ATAC-STARR-seq lymphoblastoid active region 7819 [Gene]
  • LOC130009885:ATAC-STARR-seq lymphoblastoid active region 7820 [Gene]
  • LOC130009886:ATAC-STARR-seq lymphoblastoid active region 7821 [Gene]
  • LOC130009887:ATAC-STARR-seq lymphoblastoid active region 7822 [Gene]
  • LOC130009888:ATAC-STARR-seq lymphoblastoid active region 7823 [Gene]
  • LOC130009889:ATAC-STARR-seq lymphoblastoid active region 7824 [Gene]
  • LOC130009890:ATAC-STARR-seq lymphoblastoid active region 7825 [Gene]
  • LOC130009891:ATAC-STARR-seq lymphoblastoid active region 7826 [Gene]
  • LOC130009894:ATAC-STARR-seq lymphoblastoid active region 7827 [Gene]
  • LOC130009895:ATAC-STARR-seq lymphoblastoid active region 7828 [Gene]
  • LOC130009896:ATAC-STARR-seq lymphoblastoid active region 7829 [Gene]
  • LOC130009897:ATAC-STARR-seq lymphoblastoid active region 7830 [Gene]
  • LOC130009898:ATAC-STARR-seq lymphoblastoid active region 7831 [Gene]
  • LOC130009902:ATAC-STARR-seq lymphoblastoid active region 7834 [Gene]
  • LOC130009903:ATAC-STARR-seq lymphoblastoid active region 7835 [Gene]
  • LOC130009908:ATAC-STARR-seq lymphoblastoid active region 7836 [Gene]
  • LOC130009909:ATAC-STARR-seq lymphoblastoid active region 7837 [Gene]
  • LOC130009914:ATAC-STARR-seq lymphoblastoid active region 7838 [Gene]
  • LOC130009918:ATAC-STARR-seq lymphoblastoid active region 7839 [Gene]
  • LOC130009919:ATAC-STARR-seq lymphoblastoid active region 7840 [Gene]
  • LOC130009922:ATAC-STARR-seq lymphoblastoid active region 7841 [Gene]
  • LOC130009923:ATAC-STARR-seq lymphoblastoid active region 7842 [Gene]
  • LOC130009924:ATAC-STARR-seq lymphoblastoid active region 7843 [Gene]
  • LOC130009925:ATAC-STARR-seq lymphoblastoid active region 7844 [Gene]
  • LOC130009926:ATAC-STARR-seq lymphoblastoid active region 7845 [Gene]
  • LOC130009930:ATAC-STARR-seq lymphoblastoid active region 7846 [Gene]
  • LOC130009931:ATAC-STARR-seq lymphoblastoid active region 7847 [Gene]
  • LOC130009933:ATAC-STARR-seq lymphoblastoid active region 7849 [Gene]
  • LOC130009935:ATAC-STARR-seq lymphoblastoid active region 7850 [Gene]
  • LOC130009936:ATAC-STARR-seq lymphoblastoid active region 7851 [Gene]
  • LOC130009937:ATAC-STARR-seq lymphoblastoid active region 7852 [Gene]
  • LOC130009938:ATAC-STARR-seq lymphoblastoid active region 7853 [Gene]
  • LOC130009939:ATAC-STARR-seq lymphoblastoid active region 7854 [Gene]
  • LOC130009940:ATAC-STARR-seq lymphoblastoid active region 7855 [Gene]
  • LOC130009941:ATAC-STARR-seq lymphoblastoid active region 7856 [Gene]
  • LOC130009942:ATAC-STARR-seq lymphoblastoid active region 7857 [Gene]
  • LOC130009944:ATAC-STARR-seq lymphoblastoid active region 7859 [Gene]
  • LOC130009945:ATAC-STARR-seq lymphoblastoid active region 7860 [Gene]
  • LOC130009948:ATAC-STARR-seq lymphoblastoid active region 7861 [Gene]
  • LOC130009748:ATAC-STARR-seq lymphoblastoid silent region 5330 [Gene]
  • LOC130009751:ATAC-STARR-seq lymphoblastoid silent region 5331 [Gene]
  • LOC130009752:ATAC-STARR-seq lymphoblastoid silent region 5332 [Gene]
  • LOC130009759:ATAC-STARR-seq lymphoblastoid silent region 5334 [Gene]
  • LOC130009763:ATAC-STARR-seq lymphoblastoid silent region 5335 [Gene]
  • LOC130009764:ATAC-STARR-seq lymphoblastoid silent region 5336 [Gene]
  • LOC130009775:ATAC-STARR-seq lymphoblastoid silent region 5340 [Gene]
  • LOC130009778:ATAC-STARR-seq lymphoblastoid silent region 5342 [Gene]
  • LOC130009780:ATAC-STARR-seq lymphoblastoid silent region 5343 [Gene]
  • LOC130009784:ATAC-STARR-seq lymphoblastoid silent region 5346 [Gene]
  • LOC130009786:ATAC-STARR-seq lymphoblastoid silent region 5349 [Gene]
  • LOC130009788:ATAC-STARR-seq lymphoblastoid silent region 5350 [Gene]
  • LOC130009790:ATAC-STARR-seq lymphoblastoid silent region 5351 [Gene]
  • LOC130009793:ATAC-STARR-seq lymphoblastoid silent region 5353 [Gene]
  • LOC130009794:ATAC-STARR-seq lymphoblastoid silent region 5354 [Gene]
  • LOC130009795:ATAC-STARR-seq lymphoblastoid silent region 5355 [Gene]
  • LOC130009796:ATAC-STARR-seq lymphoblastoid silent region 5356 [Gene]
  • LOC130009797:ATAC-STARR-seq lymphoblastoid silent region 5358 [Gene]
  • LOC130009798:ATAC-STARR-seq lymphoblastoid silent region 5359 [Gene]
  • LOC130009800:ATAC-STARR-seq lymphoblastoid silent region 5360 [Gene]
  • LOC130009809:ATAC-STARR-seq lymphoblastoid silent region 5361 [Gene]
  • LOC130009810:ATAC-STARR-seq lymphoblastoid silent region 5362 [Gene]
  • LOC130009811:ATAC-STARR-seq lymphoblastoid silent region 5363 [Gene]
  • LOC130009814:ATAC-STARR-seq lymphoblastoid silent region 5364 [Gene]
  • LOC130009816:ATAC-STARR-seq lymphoblastoid silent region 5367 [Gene]
  • LOC130009817:ATAC-STARR-seq lymphoblastoid silent region 5368 [Gene]
  • LOC130009818:ATAC-STARR-seq lymphoblastoid silent region 5369 [Gene]
  • LOC130009819:ATAC-STARR-seq lymphoblastoid silent region 5370 [Gene]
  • LOC130009820:ATAC-STARR-seq lymphoblastoid silent region 5371 [Gene]
  • LOC130009821:ATAC-STARR-seq lymphoblastoid silent region 5372 [Gene]
  • LOC130009823:ATAC-STARR-seq lymphoblastoid silent region 5373 [Gene]
  • LOC130009824:ATAC-STARR-seq lymphoblastoid silent region 5374 [Gene]
  • LOC130009826:ATAC-STARR-seq lymphoblastoid silent region 5375 [Gene]
  • LOC130009830:ATAC-STARR-seq lymphoblastoid silent region 5376 [Gene]
  • LOC130009834:ATAC-STARR-seq lymphoblastoid silent region 5377 [Gene]
  • LOC130009838:ATAC-STARR-seq lymphoblastoid silent region 5378 [Gene]
  • LOC130009839:ATAC-STARR-seq lymphoblastoid silent region 5379 [Gene]
  • LOC130009840:ATAC-STARR-seq lymphoblastoid silent region 5380 [Gene]
  • LOC130009843:ATAC-STARR-seq lymphoblastoid silent region 5381 [Gene]
  • LOC130009844:ATAC-STARR-seq lymphoblastoid silent region 5382 [Gene]
  • LOC130009848:ATAC-STARR-seq lymphoblastoid silent region 5384 [Gene]
  • LOC130009849:ATAC-STARR-seq lymphoblastoid silent region 5386 [Gene]
  • LOC130009860:ATAC-STARR-seq lymphoblastoid silent region 5389 [Gene]
  • LOC130009862:ATAC-STARR-seq lymphoblastoid silent region 5390 [Gene]
  • LOC130009868:ATAC-STARR-seq lymphoblastoid silent region 5391 [Gene]
  • LOC130009869:ATAC-STARR-seq lymphoblastoid silent region 5392 [Gene]
  • LOC130009871:ATAC-STARR-seq lymphoblastoid silent region 5393 [Gene]
  • LOC130009876:ATAC-STARR-seq lymphoblastoid silent region 5395 [Gene]
  • LOC130009879:ATAC-STARR-seq lymphoblastoid silent region 5397 [Gene]
  • LOC130009880:ATAC-STARR-seq lymphoblastoid silent region 5398 [Gene]
  • LOC130009884:ATAC-STARR-seq lymphoblastoid silent region 5399 [Gene]
  • LOC130009892:ATAC-STARR-seq lymphoblastoid silent region 5401 [Gene]
  • LOC130009893:ATAC-STARR-seq lymphoblastoid silent region 5402 [Gene]
  • LOC130009899:ATAC-STARR-seq lymphoblastoid silent region 5403 [Gene]
  • LOC130009900:ATAC-STARR-seq lymphoblastoid silent region 5404 [Gene]
  • LOC130009901:ATAC-STARR-seq lymphoblastoid silent region 5405 [Gene]
  • LOC130009904:ATAC-STARR-seq lymphoblastoid silent region 5406 [Gene]
  • LOC130009905:ATAC-STARR-seq lymphoblastoid silent region 5407 [Gene]
  • LOC130009906:ATAC-STARR-seq lymphoblastoid silent region 5408 [Gene]
  • LOC130009907:ATAC-STARR-seq lymphoblastoid silent region 5409 [Gene]
  • LOC130009910:ATAC-STARR-seq lymphoblastoid silent region 5411 [Gene]
  • LOC130009911:ATAC-STARR-seq lymphoblastoid silent region 5412 [Gene]
  • LOC130009912:ATAC-STARR-seq lymphoblastoid silent region 5413 [Gene]
  • LOC130009913:ATAC-STARR-seq lymphoblastoid silent region 5414 [Gene]
  • LOC130009915:ATAC-STARR-seq lymphoblastoid silent region 5415 [Gene]
  • LOC130009916:ATAC-STARR-seq lymphoblastoid silent region 5416 [Gene]
  • LOC130009917:ATAC-STARR-seq lymphoblastoid silent region 5417 [Gene]
  • LOC130009920:ATAC-STARR-seq lymphoblastoid silent region 5418 [Gene]
  • LOC130009921:ATAC-STARR-seq lymphoblastoid silent region 5419 [Gene]
  • LOC130009927:ATAC-STARR-seq lymphoblastoid silent region 5420 [Gene]
  • LOC130009928:ATAC-STARR-seq lymphoblastoid silent region 5421 [Gene]
  • LOC130009929:ATAC-STARR-seq lymphoblastoid silent region 5422 [Gene]
  • LOC130009932:ATAC-STARR-seq lymphoblastoid silent region 5424 [Gene]
  • LOC130009934:ATAC-STARR-seq lymphoblastoid silent region 5425 [Gene]
  • LOC130009943:ATAC-STARR-seq lymphoblastoid silent region 5427 [Gene]
  • LOC130009946:ATAC-STARR-seq lymphoblastoid silent region 5428 [Gene]
  • LOC130009947:ATAC-STARR-seq lymphoblastoid silent region 5429 [Gene]
  • ATP7B:ATPase copper transporting beta [Gene - OMIM - HGNC]
  • LOC109461478:ATXN8 opposite strand (non-protein coding) repeat instability region [Gene]
  • ATXN8OS:ATXN8 opposite strand lncRNA [Gene - OMIM - HGNC]
  • BORA:BORA aurora kinase A activator [Gene - OMIM - HGNC]
  • LOC126861768:BRD4-independent group 4 enhancer GRCh37_chr13:48095470-48096669 [Gene]
  • LOC126861773:BRD4-independent group 4 enhancer GRCh37_chr13:49632061-49633260 [Gene]
  • LOC126861782:BRD4-independent group 4 enhancer GRCh37_chr13:52706487-52707686 [Gene]
  • LOC126861787:BRD4-independent group 4 enhancer GRCh37_chr13:62241013-62242212 [Gene]
  • LOC126861796:BRD4-independent group 4 enhancer GRCh37_chr13:72741998-72743197 [Gene]
  • LOC126861798:BRD4-independent group 4 enhancer GRCh37_chr13:73797915-73799114 [Gene]
  • LOC126861799:BRD4-independent group 4 enhancer GRCh37_chr13:74289066-74290265 [Gene]
  • LOC126861800:BRD4-independent group 4 enhancer GRCh37_chr13:75709394-75710593 [Gene]
  • LOC126861801:BRD4-independent group 4 enhancer GRCh37_chr13:75899800-75900999 [Gene]
  • LOC126861804:BRD4-independent group 4 enhancer GRCh37_chr13:77566521-77567720 [Gene]
  • LOC126861809:BRD4-independent group 4 enhancer GRCh37_chr13:84091305-84092504 [Gene]
  • LOC126861769:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:48431764-48432963 [Gene]
  • LOC126861770:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:48575750-48576949 [Gene]
  • LOC126861775:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:50818353-50819552 [Gene]
  • LOC126861777:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:51684668-51685867 [Gene]
  • LOC126861778:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:51686552-51687751 [Gene]
  • LOC126861781:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52501865-52503064 [Gene]
  • LOC126861783:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:52922389-52923588 [Gene]
  • LOC126861789:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:65360601-65361800 [Gene]
  • LOC126861797:CDK7 strongly-dependent group 2 enhancer GRCh37_chr13:72744178-72745377 [Gene]
  • CKAP2-DT:CKAP2 divergent transcript [Gene - HGNC]
  • CLN5:CLN5 intracellular trafficking protein [Gene - OMIM - HGNC]
  • COMMD6:COMM domain containing 6 [Gene - OMIM - HGNC]
  • DIAPH3-AS1:DIAPH3 antisense RNA 1 [Gene - HGNC]
  • DIAPH3-AS2:DIAPH3 antisense RNA 2 [Gene - HGNC]
  • DIS3:DIS3 homolog, exosome endoribonuclease and 3'-5' exoribonuclease [Gene - OMIM - HGNC]
  • DLEU1-AS1:DLEU1 antisense RNA 1 [Gene - HGNC]
  • DLEU7-AS1:DLEU7 antisense RNA 1 [Gene - HGNC]
  • EBPL:EBP like [Gene - OMIM - HGNC]
  • EDNRB-AS1:EDNRB antisense RNA 1 [Gene - HGNC]
  • LOC107882129:EDNRB proximal promoter region [Gene]
  • LOC107882127:EDNRB upstream promoter region [Gene]
  • FBXL3:F-box and leucine rich repeat protein 3 [Gene - OMIM - HGNC]
  • LOC111365190:HNF1 motif-containing MPRA enhancer 52 [Gene]
  • INTS6-AS1:INTS6 antisense RNA 1 [Gene - HGNC]
  • KLF12:KLF transcription factor 12 [Gene - OMIM - HGNC]
  • KLF5:KLF transcription factor 5 [Gene - OMIM - HGNC]
  • LMO7:LIM domain 7 [Gene - OMIM - HGNC]
  • LMO7-AS1:LMO7 antisense RNA 1 [Gene - HGNC]
  • LMO7DN:LMO7 downstream neighbor [Gene - HGNC]
  • LMO7DN-IT1:LMO7DN intronic transcript 1 [Gene - HGNC]
  • LOC112163662:MED14-independent group 3 enhancer GRCh37_chr13:48640162-48641361 [Gene]
  • LOC126861771:MED14-independent group 3 enhancer GRCh37_chr13:48646101-48647300 [Gene]
  • LOC126861776:MED14-independent group 3 enhancer GRCh37_chr13:51102968-51104167 [Gene]
  • LOC126861779:MED14-independent group 3 enhancer GRCh37_chr13:52052769-52053968 [Gene]
  • LOC126861784:MED14-independent group 3 enhancer GRCh37_chr13:55060370-55061569 [Gene]
  • LOC126861785:MED14-independent group 3 enhancer GRCh37_chr13:57137111-57138310 [Gene]
  • LOC126861786:MED14-independent group 3 enhancer GRCh37_chr13:62131441-62132640 [Gene]
  • LOC126861790:MED14-independent group 3 enhancer GRCh37_chr13:66251524-66252723 [Gene]
  • LOC126861795:MED14-independent group 3 enhancer GRCh37_chr13:70544083-70545282 [Gene]
  • LOC126861802:MED14-independent group 3 enhancer GRCh37_chr13:76279181-76280380 [Gene]
  • LOC126861803:MED14-independent group 3 enhancer GRCh37_chr13:77491455-77492654 [Gene]
  • LOC126861806:MED14-independent group 3 enhancer GRCh37_chr13:80134686-80135885 [Gene]
  • LOC126861808:MED14-independent group 3 enhancer GRCh37_chr13:80766325-80767524 [Gene]
  • MED4-AS1:MED4 antisense RNA 1 [Gene - HGNC]
  • LOC129390601:MPRA-validated peak2077 silencer [Gene]
  • LOC129390602:MPRA-validated peak2084 silencer [Gene]
  • LOC129390603:MPRA-validated peak2085 silencer [Gene]
  • LOC129390604:MPRA-validated peak2087 silencer [Gene]
  • LOC129390605:MPRA-validated peak2090 silencer [Gene]
  • LOC129390606:MPRA-validated peak2091 silencer [Gene]
  • MYCBP2:MYC binding protein 2 [Gene - OMIM - HGNC]
  • MYCBP2-AS1:MYCBP2 antisense RNA 1 [Gene - HGNC]
  • MYCBP2-AS2:MYCBP2 antisense RNA 2 [Gene - HGNC]
  • NDFIP2-AS1:NDFIP2 antisense RNA 1 [Gene - HGNC]
  • NEK3:NIMA related kinase 3 [Gene - OMIM - HGNC]
  • NEK5:NIMA related kinase 5 [Gene - OMIM - HGNC]
  • LOC132090195:Neanderthal introgressed variant-containing enhancer experimental_32930 [Gene]
  • LOC132090196:Neanderthal introgressed variant-containing enhancer experimental_33081 [Gene]
  • LOC132090197:Neanderthal introgressed variant-containing enhancer experimental_33146 [Gene]
  • LOC132090198:Neanderthal introgressed variant-containing enhancer experimental_33299 [Gene]
  • LOC132090199:Neanderthal introgressed variant-containing enhancer experimental_33300 [Gene]
  • LOC132090200:Neanderthal introgressed variant-containing enhancer experimental_33301 [Gene]
  • LOC132090201:Neanderthal introgressed variant-containing enhancer experimental_33303 [Gene]
  • LOC132090864:Neanderthal introgressed variant-containing enhancer experimental_33339 [Gene]
  • LOC132090202:Neanderthal introgressed variant-containing enhancer experimental_33391 [Gene]
  • LOC132090203:Neanderthal introgressed variant-containing enhancer experimental_33392 [Gene]
  • LOC132090865:Neanderthal introgressed variant-containing enhancer experimental_33432 [Gene]
  • LOC132090204:Neanderthal introgressed variant-containing enhancer experimental_33463 [Gene]
  • LOC132090205:Neanderthal introgressed variant-containing enhancer experimental_33503 [Gene]
  • NDFIP2:Nedd4 family interacting protein 2 [Gene - OMIM - HGNC]
  • OBI1-AS1:OBI1 antisense RNA 1 [Gene - HGNC]
  • OBI1:ORC ubiquitin ligase 1 [Gene - OMIM - HGNC]
  • LOC126861772:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:49323510-49324709 [Gene]
  • LOC126861774:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:49888093-49889292 [Gene]
  • LOC126861780:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:52435707-52436906 [Gene]
  • LOC126861788:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:63216915-63218114 [Gene]
  • LOC126861791:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:66487207-66488406 [Gene]
  • LOC126861792:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:67507550-67508749 [Gene]
  • LOC126861793:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:68764645-68765844 [Gene]
  • LOC126861794:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:69462586-69463785 [Gene]
  • LOC112163668:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:73663997-73665196 [Gene]
  • LOC126861805:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:78675991-78677190 [Gene]
  • LOC126861807:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr13:80510429-80511628 [Gene]
  • PCDH9-AS1:PCDH9 antisense RNA 1 [Gene - HGNC]
  • PCDH9-AS2:PCDH9 antisense RNA 2 [Gene - HGNC]
  • PCDH9-AS3:PCDH9 antisense RNA 3 [Gene - HGNC]
  • PCDH9-AS4:PCDH9 antisense RNA 4 [Gene - HGNC]
  • PHF11:PHD finger protein 11 [Gene - OMIM - HGNC]
  • POU4F1:POU class 4 homeobox 1 [Gene - OMIM - HGNC]
  • RB1:RB transcriptional corepressor 1 [Gene - OMIM - HGNC]
  • RB1-DT:RB1 divergent transcript [Gene - HGNC]
  • RBM26-AS1:RBM26 antisense RNA 1 [Gene - HGNC]
  • RCBTB1:RCC1 and BTB domain containing protein 1 [Gene - OMIM - HGNC]
  • RCBTB2:RCC1 and BTB domain containing protein 2 [Gene - OMIM - HGNC]
  • RBM26:RNA binding motif protein 26 [Gene - OMIM - HGNC]
  • RNASEH2B-AS1:RNASEH2B antisense RNA 1 [Gene - HGNC]
  • SCEL-AS1:SCEL antisense RNA 1 [Gene - HGNC]
  • SETDB2:SET domain bifurcated histone lysine methyltransferase 2 [Gene - OMIM - HGNC]
  • SETDB2-PHF11:SETDB2-PHF11 readthrough [Gene]
  • SUGT1:SGT1 homolog, MIS12 kinetochore complex assembly cochaperone [Gene - OMIM - HGNC]
  • SLAIN1:SLAIN motif family member 1 [Gene - OMIM - HGNC]
  • SLITRK1:SLIT and NTRK like family member 1 [Gene - OMIM - HGNC]
  • SPRYD7:SPRY domain containing 7 [Gene - OMIM - HGNC]
  • SUCLA2-AS1:SUCLA2 antisense RNA 1 [Gene - HGNC]
  • SUGT1-DT:SUGT1 divergent transcript [Gene - HGNC]
  • LOC124900139:Sharpr-MPRA regulatory region 10165 [Gene]
  • LOC121838576:Sharpr-MPRA regulatory region 10224 [Gene]
  • LOC112163669:Sharpr-MPRA regulatory region 11269 [Gene]
  • LOC124900156:Sharpr-MPRA regulatory region 11307 [Gene]
  • LOC112163671:Sharpr-MPRA regulatory region 1150 [Gene]
  • LOC124909502:Sharpr-MPRA regulatory region 11619 [Gene]
  • LOC121838577:Sharpr-MPRA regulatory region 11905 [Gene]
  • LOC124900161:Sharpr-MPRA regulatory region 12707 [Gene]
  • LOC112163666:Sharpr-MPRA regulatory region 1301 [Gene]
  • LOC124885097:Sharpr-MPRA regulatory region 13035 [Gene]
  • LOC124900140:Sharpr-MPRA regulatory region 13323 [Gene]
  • LOC124885096:Sharpr-MPRA regulatory region 1366 [Gene]
  • LOC113939939:Sharpr-MPRA regulatory region 13963 [Gene]
  • LOC124909503:Sharpr-MPRA regulatory region 14274 [Gene]
  • LOC112163667:Sharpr-MPRA regulatory region 14942 [Gene]
  • LOC121466733:Sharpr-MPRA regulatory region 15313 [Gene]
  • LOC124900147:Sharpr-MPRA regulatory region 15635 [Gene]
  • LOC124900150:Sharpr-MPRA regulatory region 1645 [Gene]
  • LOC112163670:Sharpr-MPRA regulatory region 2285 [Gene]
  • LOC112163663:Sharpr-MPRA regulatory region 2352 [Gene]
  • LOC124900148:Sharpr-MPRA regulatory region 2809 [Gene]
  • LOC124900146:Sharpr-MPRA regulatory region 2859 [Gene]
  • LOC124900152:Sharpr-MPRA regulatory region 3887 [Gene]
  • LOC112163665:Sharpr-MPRA regulatory region 4317 [Gene]
  • LOC124900151:Sharpr-MPRA regulatory region 559 [Gene]
  • LOC121838578:Sharpr-MPRA regulatory region 561 [Gene]
  • LOC124885095:Sharpr-MPRA regulatory region 5997 [Gene]
  • LOC124900149:Sharpr-MPRA regulatory region 6127 [Gene]
  • LOC124900138:Sharpr-MPRA regulatory region 6161 [Gene]
  • LOC124900155:Sharpr-MPRA regulatory region 6777 [Gene]
  • LOC124900142:Sharpr-MPRA regulatory region 6827 [Gene]
  • LOC124885098:Sharpr-MPRA regulatory region 6847 [Gene]
  • LOC124909501:Sharpr-MPRA regulatory region 6884 [Gene]
  • LOC121838579:Sharpr-MPRA regulatory region 6918 [Gene]
  • LOC124900159:Sharpr-MPRA regulatory region 7062 [Gene]
  • LOC124900157:Sharpr-MPRA regulatory region 7190 [Gene]
  • LOC124900160:Sharpr-MPRA regulatory region 7593 [Gene]
  • LOC121468000:Sharpr-MPRA regulatory region 8019 [Gene]
  • LOC112163664:Sharpr-MPRA regulatory region 8029 [Gene]
  • LOC124900144:Sharpr-MPRA regulatory region 8155 [Gene]
  • LOC124900143:Sharpr-MPRA regulatory region 8165 [Gene]
  • LOC121838575:Sharpr-MPRA regulatory region 8262 [Gene]
  • LOC124900154:Sharpr-MPRA regulatory region 8361 [Gene]
  • LOC124900153:Sharpr-MPRA regulatory region 8499 [Gene]
  • LOC124900141:Sharpr-MPRA regulatory region 84 [Gene]
  • LOC124900158:Sharpr-MPRA regulatory region 870 [Gene]
  • LOC121838580:Sharpr-MPRA regulatory region 9192 [Gene]
  • LOC124909500:Sharpr-MPRA regulatory region 9294 [Gene]
  • TBC1D4:TBC1 domain family member 4 [Gene - OMIM - HGNC]
  • UTP14C:UTP14C small subunit processome component [Gene - OMIM - HGNC]
  • LOC110120827:VISTA enhancer hs126 [Gene]
  • LOC110120828:VISTA enhancer hs129 [Gene]
  • LOC110120829:VISTA enhancer hs131 [Gene]
  • LOC110120830:VISTA enhancer hs135 [Gene]
  • LOC110120831:VISTA enhancer hs137 [Gene]
  • LOC110120832:VISTA enhancer hs138 [Gene]
  • LOC110121360:VISTA enhancer hs1394 [Gene]
  • LOC110120833:VISTA enhancer hs141 [Gene]
  • LOC110120834:VISTA enhancer hs142 [Gene]
  • LOC110121375:VISTA enhancer hs1471 [Gene]
  • LOC110120843:VISTA enhancer hs188 [Gene]
  • LOC110120891:VISTA enhancer hs540 [Gene]
  • LOC110120897:VISTA enhancer hs575 [Gene]
  • LOC110120909:VISTA enhancer hs619 [Gene]
  • LOC110120945:VISTA enhancer hs881 [Gene]
  • LOC110120946:VISTA enhancer hs882 [Gene]
  • LOC110120950:VISTA enhancer hs915 [Gene]
  • WDFY2:WD repeat and FYVE domain containing 2 [Gene - OMIM - HGNC]
  • ACOD1:aconitate decarboxylase 1 [Gene - OMIM - HGNC]
  • CAB39L:calcium binding protein 39 like [Gene - OMIM - HGNC]
  • CNMD:chondromodulin [Gene - OMIM - HGNC]
  • C13orf42:chromosome 13 open reading frame 42 [Gene - HGNC]
  • CCDC70:coiled-coil domain containing 70 [Gene - HGNC]
  • CYSLTR2:cysteinyl leukotriene receptor 2 [Gene - OMIM - HGNC]
  • CDADC1:cytidine and dCMP deaminase domain containing 1 [Gene - OMIM - HGNC]
  • CKAP2:cytoskeleton associated protein 2 [Gene - OMIM - HGNC]
  • DACH1:dachshund family transcription factor 1 [Gene - OMIM - HGNC]
  • DHRS12:dehydrogenase/reductase 12 [Gene - OMIM - HGNC]
  • DLEU1:deleted in lymphocytic leukemia 1 [Gene - OMIM - HGNC]
  • DLEU2:deleted in lymphocytic leukemia 2 [Gene - OMIM - HGNC]
  • DLEU7:deleted in lymphocytic leukemia 7 [Gene - OMIM - HGNC]
  • DIAPH3:diaphanous related formin 3 [Gene - OMIM - HGNC]
  • EDNRB:endothelin receptor type B [Gene - OMIM - HGNC]
  • FAM124A:family with sequence similarity 124 member A [Gene - HGNC]
  • FNDC3A:fibronectin type III domain containing 3A [Gene - OMIM - HGNC]
  • HNRNPA1L2:heterogeneous nuclear ribonucleoprotein A1 like 2 [Gene - HGNC]
  • ITM2B:integral membrane protein 2B [Gene - OMIM - HGNC]
  • INTS6:integrator complex subunit 6 [Gene - OMIM - HGNC]
  • KPNA3:karyopherin subunit alpha 3 [Gene - OMIM - HGNC]
  • KLHL1:kelch like family member 1 [Gene - OMIM - HGNC]
  • LOC112267897:keratin-associated protein 21-1-like [Gene]
  • LOC647264:keratin-associated protein 21-1 [Gene]
  • LOC105370268:lncRNA-ACOD1 [Gene - OMIM]
  • LINC01038:long intergenic non-protein coding RNA 1038 [Gene - HGNC]
  • LINC01052:long intergenic non-protein coding RNA 1052 [Gene - HGNC]
  • LINC01065:long intergenic non-protein coding RNA 1065 [Gene - HGNC]
  • LINC01068:long intergenic non-protein coding RNA 1068 [Gene - HGNC]
  • LINC01069:long intergenic non-protein coding RNA 1069 [Gene - HGNC]
  • LINC01074:long intergenic non-protein coding RNA 1074 [Gene - HGNC]
  • LINC01075:long intergenic non-protein coding RNA 1075 [Gene - HGNC]
  • LINC01077:long intergenic non-protein coding RNA 1077 [Gene - HGNC]
  • LINC01078:long intergenic non-protein coding RNA 1078 [Gene - HGNC]
  • LINC01080:long intergenic non-protein coding RNA 1080 [Gene - OMIM - HGNC]
  • LINC01442:long intergenic non-protein coding RNA 1442 [Gene - HGNC]
  • LINC02333:long intergenic non-protein coding RNA 2333 [Gene - HGNC]
  • LINC02335:long intergenic non-protein coding RNA 2335 [Gene - HGNC]
  • LINC02338:long intergenic non-protein coding RNA 2338 [Gene - HGNC]
  • LINC02339:long intergenic non-protein coding RNA 2339 [Gene - HGNC]
  • LINC00331:long intergenic non-protein coding RNA 331 [Gene - HGNC]
  • LINC00333:long intergenic non-protein coding RNA 333 [Gene - HGNC]
  • LINC00345:long intergenic non-protein coding RNA 345 [Gene - HGNC]
  • LINC00347:long intergenic non-protein coding RNA 347 [Gene - HGNC]
  • LINC00348:long intergenic non-protein coding RNA 348 [Gene - HGNC]
  • LINC00355:long intergenic non-protein coding RNA 355 [Gene - HGNC]
  • LINC00358:long intergenic non-protein coding RNA 358 [Gene - HGNC]
  • LINC00364:long intergenic non-protein coding RNA 364 [Gene - HGNC]
  • LINC00374:long intergenic non-protein coding RNA 374 [Gene - HGNC]
  • LINC00376:long intergenic non-protein coding RNA 376 [Gene - HGNC]
  • LINC00377:long intergenic non-protein coding RNA 377 [Gene - HGNC]
  • LINC00378:long intergenic non-protein coding RNA 378 [Gene - HGNC]
  • LINC00381:long intergenic non-protein coding RNA 381 [Gene - HGNC]
  • LINC00382:long intergenic non-protein coding RNA 382 [Gene - HGNC]
  • LINC00383:long intergenic non-protein coding RNA 383 [Gene - HGNC]
  • LINC00392:long intergenic non-protein coding RNA 392 [Gene - HGNC]
  • LINC00393:long intergenic non-protein coding RNA 393 [Gene - HGNC]
  • LINC00395:long intergenic non-protein coding RNA 395 [Gene - HGNC]
  • LINC00402:long intergenic non-protein coding RNA 402 [Gene - HGNC]
  • LINC00434:long intergenic non-protein coding RNA 434 [Gene - HGNC]
  • LINC00444:long intergenic non-protein coding RNA 444 [Gene - HGNC]
  • LINC00446:long intergenic non-protein coding RNA 446 [Gene - HGNC]
  • LINC00448:long intergenic non-protein coding RNA 448 [Gene - HGNC]
  • LINC00458:long intergenic non-protein coding RNA 458 [Gene - HGNC]
  • LINC00459:long intergenic non-protein coding RNA 459 [Gene - HGNC]
  • LINC00462:long intergenic non-protein coding RNA 462 [Gene - HGNC]
  • LINC00550:long intergenic non-protein coding RNA 550 [Gene - HGNC]
  • LINC00558:long intergenic non-protein coding RNA 558 [Gene - HGNC]
  • LINC00561:long intergenic non-protein coding RNA 561 [Gene - HGNC]
  • LINC00562:long intergenic non-protein coding RNA 562 [Gene - HGNC]
  • LINC00564:long intergenic non-protein coding RNA 564 [Gene - HGNC]
  • LPAR6:lysophosphatidic acid receptor 6 [Gene - OMIM - HGNC]
  • MED4:mediator complex subunit 4 [Gene - OMIM - HGNC]
  • LOC107457599:meiotic recombination hotspot P [Gene]
  • MIR1297:microRNA 1297 [Gene - HGNC]
  • MIR15A:microRNA 15a [Gene - OMIM - HGNC]
  • MIR16-1:microRNA 16-1 [Gene - OMIM - HGNC]
  • MIR3169:microRNA 3169 [Gene - HGNC]
  • MIR3613:microRNA 3613 [Gene - HGNC]
  • MIR3665:microRNA 3665 [Gene - HGNC]
  • MIR4703:microRNA 4703 [Gene - HGNC]
  • MIR4704:microRNA 4704 [Gene - HGNC]
  • MIR5007:microRNA 5007 [Gene - HGNC]
  • MIR548X2:microRNA 548x-2 [Gene - HGNC]
  • MIR5693:microRNA 5693 [Gene - HGNC]
  • MIR759:microRNA 759 [Gene - HGNC]
  • MZT1:mitotic spindle organizing protein 1 [Gene - OMIM - HGNC]
  • MLNR:motilin receptor [Gene - OMIM - HGNC]
  • NUDT15:nudix hydrolase 15 [Gene - OMIM - HGNC]
  • OLFM4:olfactomedin 4 [Gene - OMIM - HGNC]
  • KCNRG:potassium channel regulator [Gene - OMIM - HGNC]
  • KCTD12:potassium channel tetramerization domain containing 12 [Gene - OMIM - HGNC]
  • PIBF1:progesterone immunomodulatory binding factor 1 [Gene - OMIM - HGNC]
  • PRR20A:proline rich 20A [Gene - HGNC]
  • PRR20B:proline rich 20B [Gene - HGNC]
  • PRR20C:proline rich 20C [Gene - HGNC]
  • PRR20D:proline rich 20D [Gene - HGNC]
  • PRR20E:proline rich 20E [Gene - HGNC]
  • PCDH17:protocadherin 17 [Gene - OMIM - HGNC]
  • PCDH20:protocadherin 20 [Gene - OMIM - HGNC]
  • PCDH8:protocadherin 8 [Gene - OMIM - HGNC]
  • PCDH9:protocadherin 9 [Gene - OMIM - HGNC]
  • LOC100129307:putative UPF0607 protein ENSP00000383144 [Gene]
  • RNASEH2B:ribonuclease H2 subunit B [Gene - OMIM - HGNC]
  • SCEL:sciellin [Gene - OMIM - HGNC]
  • SERPINE3:serpin family E member 3 [Gene - HGNC]
  • SPRY2:sprouty RTK signaling antagonist 2 [Gene - OMIM - HGNC]
  • SUCLA2:succinate-CoA ligase ADP-forming subunit beta [Gene - OMIM - HGNC]
  • THSD1:thrombospondin type 1 domain containing 1 [Gene - OMIM - HGNC]
  • TMEM272:transmembrane protein 272 [Gene - HGNC]
  • TRIM13:tripartite motif containing 13 [Gene - OMIM - HGNC]
  • TDRD3:tudor domain containing 3 [Gene - OMIM - HGNC]
  • UCHL3:ubiquitin C-terminal hydrolase L3 [Gene - OMIM - HGNC]
  • LOC100288208:uncharacterized LOC100288208 [Gene]
  • LOC101929657:uncharacterized LOC101929657 [Gene]
  • LOC102723968:uncharacterized LOC102723968 [Gene]
  • LOC105370203:uncharacterized LOC105370203 [Gene]
  • LOC105370259:uncharacterized LOC105370259 [Gene]
  • LOC127898562:uncharacterized LOC127898562 [Gene]
  • LOC780529:uncharacterized LOC780529 [Gene]
  • VPS36:vacuolar protein sorting 36 homolog [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
13q14.2-31.1
Genomic location:
Preferred name:
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1
HGVS:
  • NC_000013.11:g.(?_47117587)_(84300935_?)del
  • NC_000013.10:g.(?_47691722)_(84875070_?)del
  • NC_000013.9:g.(?_46589723)_(83773071_?)del
Links:
dbVar: nssv582584; dbVar: nsv533975
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000176748ISCA 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
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, SCV000176748.4

#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