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GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 5, 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:
RCV000139362.7

Allele description [Variation Report for GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3]

GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3

Genes:
  • LOC130006824:ATAC-STARR-seq lymphoblastoid active region 5571 [Gene]
  • LOC130006825:ATAC-STARR-seq lymphoblastoid active region 5572 [Gene]
  • LOC130006826:ATAC-STARR-seq lymphoblastoid active region 5573 [Gene]
  • LOC130006827:ATAC-STARR-seq lymphoblastoid active region 5574 [Gene]
  • LOC130006828:ATAC-STARR-seq lymphoblastoid active region 5575 [Gene]
  • LOC130006830:ATAC-STARR-seq lymphoblastoid active region 5577 [Gene]
  • LOC130006831:ATAC-STARR-seq lymphoblastoid active region 5579 [Gene]
  • LOC130006834:ATAC-STARR-seq lymphoblastoid active region 5580 [Gene]
  • LOC130006836:ATAC-STARR-seq lymphoblastoid active region 5581 [Gene]
  • LOC130006837:ATAC-STARR-seq lymphoblastoid active region 5582 [Gene]
  • LOC130006838:ATAC-STARR-seq lymphoblastoid active region 5583 [Gene]
  • LOC130006840:ATAC-STARR-seq lymphoblastoid active region 5584 [Gene]
  • LOC130006841:ATAC-STARR-seq lymphoblastoid active region 5587 [Gene]
  • LOC130006842:ATAC-STARR-seq lymphoblastoid active region 5588 [Gene]
  • LOC130006843:ATAC-STARR-seq lymphoblastoid active region 5589 [Gene]
  • LOC130006844:ATAC-STARR-seq lymphoblastoid active region 5590 [Gene]
  • LOC130006845:ATAC-STARR-seq lymphoblastoid active region 5591 [Gene]
  • LOC130006849:ATAC-STARR-seq lymphoblastoid active region 5593 [Gene]
  • LOC130006850:ATAC-STARR-seq lymphoblastoid active region 5594 [Gene]
  • LOC130006851:ATAC-STARR-seq lymphoblastoid active region 5595 [Gene]
  • LOC130006856:ATAC-STARR-seq lymphoblastoid active region 5596 [Gene]
  • LOC130006857:ATAC-STARR-seq lymphoblastoid active region 5597 [Gene]
  • LOC130006859:ATAC-STARR-seq lymphoblastoid active region 5599 [Gene]
  • LOC130006861:ATAC-STARR-seq lymphoblastoid active region 5600 [Gene]
  • LOC130006862:ATAC-STARR-seq lymphoblastoid active region 5601 [Gene]
  • LOC130006863:ATAC-STARR-seq lymphoblastoid active region 5602 [Gene]
  • LOC130006864:ATAC-STARR-seq lymphoblastoid active region 5603 [Gene]
  • LOC130006865:ATAC-STARR-seq lymphoblastoid active region 5604 [Gene]
  • LOC130006868:ATAC-STARR-seq lymphoblastoid active region 5605 [Gene]
  • LOC130006869:ATAC-STARR-seq lymphoblastoid active region 5606 [Gene]
  • LOC130006870:ATAC-STARR-seq lymphoblastoid active region 5607 [Gene]
  • LOC130006871:ATAC-STARR-seq lymphoblastoid active region 5608 [Gene]
  • LOC130006872:ATAC-STARR-seq lymphoblastoid active region 5609 [Gene]
  • LOC130006873:ATAC-STARR-seq lymphoblastoid active region 5610 [Gene]
  • LOC130006877:ATAC-STARR-seq lymphoblastoid active region 5611 [Gene]
  • LOC130006878:ATAC-STARR-seq lymphoblastoid active region 5612 [Gene]
  • LOC130006879:ATAC-STARR-seq lymphoblastoid active region 5613 [Gene]
  • LOC130006880:ATAC-STARR-seq lymphoblastoid active region 5614 [Gene]
  • LOC130006881:ATAC-STARR-seq lymphoblastoid active region 5615 [Gene]
  • LOC130006882:ATAC-STARR-seq lymphoblastoid active region 5616 [Gene]
  • LOC130006884:ATAC-STARR-seq lymphoblastoid active region 5617 [Gene]
  • LOC130006885:ATAC-STARR-seq lymphoblastoid active region 5618 [Gene]
  • LOC130006886:ATAC-STARR-seq lymphoblastoid active region 5619 [Gene]
  • LOC130006887:ATAC-STARR-seq lymphoblastoid active region 5620 [Gene]
  • LOC130006891:ATAC-STARR-seq lymphoblastoid active region 5626 [Gene]
  • LOC130006897:ATAC-STARR-seq lymphoblastoid active region 5627 [Gene]
  • LOC130006898:ATAC-STARR-seq lymphoblastoid active region 5628 [Gene]
  • LOC130006900:ATAC-STARR-seq lymphoblastoid active region 5629 [Gene]
  • LOC130006902:ATAC-STARR-seq lymphoblastoid active region 5630 [Gene]
  • LOC130006905:ATAC-STARR-seq lymphoblastoid active region 5631 [Gene]
  • LOC130006906:ATAC-STARR-seq lymphoblastoid active region 5632 [Gene]
  • LOC130006907:ATAC-STARR-seq lymphoblastoid active region 5633 [Gene]
  • LOC130006908:ATAC-STARR-seq lymphoblastoid active region 5634 [Gene]
  • LOC130006909:ATAC-STARR-seq lymphoblastoid active region 5635 [Gene]
  • LOC130006911:ATAC-STARR-seq lymphoblastoid active region 5636 [Gene]
  • LOC130006918:ATAC-STARR-seq lymphoblastoid active region 5637 [Gene]
  • LOC130006919:ATAC-STARR-seq lymphoblastoid active region 5638 [Gene]
  • LOC130006922:ATAC-STARR-seq lymphoblastoid active region 5639 [Gene]
  • LOC130006923:ATAC-STARR-seq lymphoblastoid active region 5640 [Gene]
  • LOC130006929:ATAC-STARR-seq lymphoblastoid active region 5642 [Gene]
  • LOC130006932:ATAC-STARR-seq lymphoblastoid active region 5643 [Gene]
  • LOC130006933:ATAC-STARR-seq lymphoblastoid active region 5644 [Gene]
  • LOC130006934:ATAC-STARR-seq lymphoblastoid active region 5645 [Gene]
  • LOC130006935:ATAC-STARR-seq lymphoblastoid active region 5646 [Gene]
  • LOC130006937:ATAC-STARR-seq lymphoblastoid active region 5647 [Gene]
  • LOC130006938:ATAC-STARR-seq lymphoblastoid active region 5648 [Gene]
  • LOC130006939:ATAC-STARR-seq lymphoblastoid active region 5649 [Gene]
  • LOC130006940:ATAC-STARR-seq lymphoblastoid active region 5650 [Gene]
  • LOC130006941:ATAC-STARR-seq lymphoblastoid active region 5651 [Gene]
  • LOC130006944:ATAC-STARR-seq lymphoblastoid active region 5652 [Gene]
  • LOC130006945:ATAC-STARR-seq lymphoblastoid active region 5653 [Gene]
  • LOC130006946:ATAC-STARR-seq lymphoblastoid active region 5654 [Gene]
  • LOC130006947:ATAC-STARR-seq lymphoblastoid active region 5655 [Gene]
  • LOC130006949:ATAC-STARR-seq lymphoblastoid active region 5657 [Gene]
  • LOC130006950:ATAC-STARR-seq lymphoblastoid active region 5658 [Gene]
  • LOC130006951:ATAC-STARR-seq lymphoblastoid active region 5659 [Gene]
  • LOC130006952:ATAC-STARR-seq lymphoblastoid active region 5660 [Gene]
  • LOC130006953:ATAC-STARR-seq lymphoblastoid active region 5661 [Gene]
  • LOC130006955:ATAC-STARR-seq lymphoblastoid active region 5662 [Gene]
  • LOC130006956:ATAC-STARR-seq lymphoblastoid active region 5663 [Gene]
  • LOC130006957:ATAC-STARR-seq lymphoblastoid active region 5664 [Gene]
  • LOC130006958:ATAC-STARR-seq lymphoblastoid active region 5665 [Gene]
  • LOC130006959:ATAC-STARR-seq lymphoblastoid active region 5666 [Gene]
  • LOC130006963:ATAC-STARR-seq lymphoblastoid active region 5667 [Gene]
  • LOC130006964:ATAC-STARR-seq lymphoblastoid active region 5668 [Gene]
  • LOC130006965:ATAC-STARR-seq lymphoblastoid active region 5669 [Gene]
  • LOC130006966:ATAC-STARR-seq lymphoblastoid active region 5670 [Gene]
  • LOC130006967:ATAC-STARR-seq lymphoblastoid active region 5671 [Gene]
  • LOC130006968:ATAC-STARR-seq lymphoblastoid active region 5672 [Gene]
  • LOC130006969:ATAC-STARR-seq lymphoblastoid active region 5673 [Gene]
  • LOC130006970:ATAC-STARR-seq lymphoblastoid active region 5674 [Gene]
  • LOC130006972:ATAC-STARR-seq lymphoblastoid active region 5675 [Gene]
  • LOC130006974:ATAC-STARR-seq lymphoblastoid active region 5676 [Gene]
  • LOC130006977:ATAC-STARR-seq lymphoblastoid active region 5677 [Gene]
  • LOC130006979:ATAC-STARR-seq lymphoblastoid active region 5678 [Gene]
  • LOC130006980:ATAC-STARR-seq lymphoblastoid active region 5679 [Gene]
  • LOC130006981:ATAC-STARR-seq lymphoblastoid active region 5680 [Gene]
  • LOC130006982:ATAC-STARR-seq lymphoblastoid active region 5681 [Gene]
  • LOC130006983:ATAC-STARR-seq lymphoblastoid active region 5683 [Gene]
  • LOC130006986:ATAC-STARR-seq lymphoblastoid active region 5684 [Gene]
  • LOC130006987:ATAC-STARR-seq lymphoblastoid active region 5685 [Gene]
  • LOC130006989:ATAC-STARR-seq lymphoblastoid active region 5686 [Gene]
  • LOC130006994:ATAC-STARR-seq lymphoblastoid active region 5687 [Gene]
  • LOC130006997:ATAC-STARR-seq lymphoblastoid active region 5688 [Gene]
  • LOC130007001:ATAC-STARR-seq lymphoblastoid active region 5690 [Gene]
  • LOC130007002:ATAC-STARR-seq lymphoblastoid active region 5691 [Gene]
  • LOC130007009:ATAC-STARR-seq lymphoblastoid active region 5692 [Gene]
  • LOC130007010:ATAC-STARR-seq lymphoblastoid active region 5693 [Gene]
  • LOC130007011:ATAC-STARR-seq lymphoblastoid active region 5694 [Gene]
  • LOC130007013:ATAC-STARR-seq lymphoblastoid active region 5697 [Gene]
  • LOC130007014:ATAC-STARR-seq lymphoblastoid active region 5698 [Gene]
  • LOC130007015:ATAC-STARR-seq lymphoblastoid active region 5699 [Gene]
  • LOC130007016:ATAC-STARR-seq lymphoblastoid active region 5700 [Gene]
  • LOC130007017:ATAC-STARR-seq lymphoblastoid active region 5702 [Gene]
  • LOC130007024:ATAC-STARR-seq lymphoblastoid active region 5703 [Gene]
  • LOC130007025:ATAC-STARR-seq lymphoblastoid active region 5704 [Gene]
  • LOC130007026:ATAC-STARR-seq lymphoblastoid active region 5705 [Gene]
  • LOC130007027:ATAC-STARR-seq lymphoblastoid active region 5706 [Gene]
  • LOC130007029:ATAC-STARR-seq lymphoblastoid active region 5707 [Gene]
  • LOC130007030:ATAC-STARR-seq lymphoblastoid active region 5708 [Gene]
  • LOC130007032:ATAC-STARR-seq lymphoblastoid active region 5710 [Gene]
  • LOC130007033:ATAC-STARR-seq lymphoblastoid active region 5711 [Gene]
  • LOC130007034:ATAC-STARR-seq lymphoblastoid active region 5712 [Gene]
  • LOC130006829:ATAC-STARR-seq lymphoblastoid silent region 3939 [Gene]
  • LOC130006832:ATAC-STARR-seq lymphoblastoid silent region 3940 [Gene]
  • LOC130006833:ATAC-STARR-seq lymphoblastoid silent region 3941 [Gene]
  • LOC130006835:ATAC-STARR-seq lymphoblastoid silent region 3942 [Gene]
  • LOC130006839:ATAC-STARR-seq lymphoblastoid silent region 3943 [Gene]
  • LOC130006846:ATAC-STARR-seq lymphoblastoid silent region 3945 [Gene]
  • LOC130006847:ATAC-STARR-seq lymphoblastoid silent region 3946 [Gene]
  • LOC130006848:ATAC-STARR-seq lymphoblastoid silent region 3947 [Gene]
  • LOC130006852:ATAC-STARR-seq lymphoblastoid silent region 3948 [Gene]
  • LOC130006853:ATAC-STARR-seq lymphoblastoid silent region 3949 [Gene]
  • LOC130006854:ATAC-STARR-seq lymphoblastoid silent region 3950 [Gene]
  • LOC130006855:ATAC-STARR-seq lymphoblastoid silent region 3951 [Gene]
  • LOC130006858:ATAC-STARR-seq lymphoblastoid silent region 3953 [Gene]
  • LOC130006860:ATAC-STARR-seq lymphoblastoid silent region 3954 [Gene]
  • LOC130006866:ATAC-STARR-seq lymphoblastoid silent region 3955 [Gene]
  • LOC130006867:ATAC-STARR-seq lymphoblastoid silent region 3956 [Gene]
  • LOC130006874:ATAC-STARR-seq lymphoblastoid silent region 3957 [Gene]
  • LOC130006875:ATAC-STARR-seq lymphoblastoid silent region 3958 [Gene]
  • LOC130006876:ATAC-STARR-seq lymphoblastoid silent region 3959 [Gene]
  • LOC130006883:ATAC-STARR-seq lymphoblastoid silent region 3962 [Gene]
  • LOC130006888:ATAC-STARR-seq lymphoblastoid silent region 3968 [Gene]
  • LOC130006889:ATAC-STARR-seq lymphoblastoid silent region 3969 [Gene]
  • LOC130006890:ATAC-STARR-seq lymphoblastoid silent region 3970 [Gene]
  • LOC130006892:ATAC-STARR-seq lymphoblastoid silent region 3971 [Gene]
  • LOC130006893:ATAC-STARR-seq lymphoblastoid silent region 3973 [Gene]
  • LOC130006894:ATAC-STARR-seq lymphoblastoid silent region 3974 [Gene]
  • LOC130006895:ATAC-STARR-seq lymphoblastoid silent region 3975 [Gene]
  • LOC130006896:ATAC-STARR-seq lymphoblastoid silent region 3976 [Gene]
  • LOC130006899:ATAC-STARR-seq lymphoblastoid silent region 3977 [Gene]
  • LOC130006901:ATAC-STARR-seq lymphoblastoid silent region 3979 [Gene]
  • LOC130006903:ATAC-STARR-seq lymphoblastoid silent region 3980 [Gene]
  • LOC130006904:ATAC-STARR-seq lymphoblastoid silent region 3981 [Gene]
  • LOC130006910:ATAC-STARR-seq lymphoblastoid silent region 3985 [Gene]
  • LOC130006912:ATAC-STARR-seq lymphoblastoid silent region 3986 [Gene]
  • LOC130006913:ATAC-STARR-seq lymphoblastoid silent region 3987 [Gene]
  • LOC130006914:ATAC-STARR-seq lymphoblastoid silent region 3988 [Gene]
  • LOC130006915:ATAC-STARR-seq lymphoblastoid silent region 3989 [Gene]
  • LOC130006916:ATAC-STARR-seq lymphoblastoid silent region 3990 [Gene]
  • LOC130006917:ATAC-STARR-seq lymphoblastoid silent region 3991 [Gene]
  • LOC130006920:ATAC-STARR-seq lymphoblastoid silent region 3992 [Gene]
  • LOC130006921:ATAC-STARR-seq lymphoblastoid silent region 3993 [Gene]
  • LOC130006924:ATAC-STARR-seq lymphoblastoid silent region 3995 [Gene]
  • LOC130006925:ATAC-STARR-seq lymphoblastoid silent region 3996 [Gene]
  • LOC130006926:ATAC-STARR-seq lymphoblastoid silent region 3997 [Gene]
  • LOC130006927:ATAC-STARR-seq lymphoblastoid silent region 3998 [Gene]
  • LOC130006928:ATAC-STARR-seq lymphoblastoid silent region 3999 [Gene]
  • LOC130006930:ATAC-STARR-seq lymphoblastoid silent region 4000 [Gene]
  • LOC130006931:ATAC-STARR-seq lymphoblastoid silent region 4001 [Gene]
  • LOC130006936:ATAC-STARR-seq lymphoblastoid silent region 4002 [Gene]
  • LOC130006942:ATAC-STARR-seq lymphoblastoid silent region 4003 [Gene]
  • LOC130006943:ATAC-STARR-seq lymphoblastoid silent region 4004 [Gene]
  • LOC130006948:ATAC-STARR-seq lymphoblastoid silent region 4005 [Gene]
  • LOC130006954:ATAC-STARR-seq lymphoblastoid silent region 4006 [Gene]
  • LOC130006960:ATAC-STARR-seq lymphoblastoid silent region 4007 [Gene]
  • LOC130006961:ATAC-STARR-seq lymphoblastoid silent region 4008 [Gene]
  • LOC130006962:ATAC-STARR-seq lymphoblastoid silent region 4009 [Gene]
  • LOC130006971:ATAC-STARR-seq lymphoblastoid silent region 4010 [Gene]
  • LOC130006973:ATAC-STARR-seq lymphoblastoid silent region 4011 [Gene]
  • LOC130006975:ATAC-STARR-seq lymphoblastoid silent region 4012 [Gene]
  • LOC130006976:ATAC-STARR-seq lymphoblastoid silent region 4013 [Gene]
  • LOC130006978:ATAC-STARR-seq lymphoblastoid silent region 4014 [Gene]
  • LOC130006984:ATAC-STARR-seq lymphoblastoid silent region 4015 [Gene]
  • LOC130006985:ATAC-STARR-seq lymphoblastoid silent region 4016 [Gene]
  • LOC130006988:ATAC-STARR-seq lymphoblastoid silent region 4017 [Gene]
  • LOC130006990:ATAC-STARR-seq lymphoblastoid silent region 4018 [Gene]
  • LOC130006991:ATAC-STARR-seq lymphoblastoid silent region 4019 [Gene]
  • LOC130006992:ATAC-STARR-seq lymphoblastoid silent region 4020 [Gene]
  • LOC130006993:ATAC-STARR-seq lymphoblastoid silent region 4021 [Gene]
  • LOC130006995:ATAC-STARR-seq lymphoblastoid silent region 4022 [Gene]
  • LOC130006996:ATAC-STARR-seq lymphoblastoid silent region 4023 [Gene]
  • LOC130006998:ATAC-STARR-seq lymphoblastoid silent region 4025 [Gene]
  • LOC130006999:ATAC-STARR-seq lymphoblastoid silent region 4026 [Gene]
  • LOC130007000:ATAC-STARR-seq lymphoblastoid silent region 4027 [Gene]
  • LOC130007003:ATAC-STARR-seq lymphoblastoid silent region 4029 [Gene]
  • LOC130007004:ATAC-STARR-seq lymphoblastoid silent region 4030 [Gene]
  • LOC130007005:ATAC-STARR-seq lymphoblastoid silent region 4031 [Gene]
  • LOC130007006:ATAC-STARR-seq lymphoblastoid silent region 4035 [Gene]
  • LOC130007007:ATAC-STARR-seq lymphoblastoid silent region 4036 [Gene]
  • LOC130007008:ATAC-STARR-seq lymphoblastoid silent region 4037 [Gene]
  • LOC130007012:ATAC-STARR-seq lymphoblastoid silent region 4039 [Gene]
  • LOC130007018:ATAC-STARR-seq lymphoblastoid silent region 4042 [Gene]
  • LOC130007019:ATAC-STARR-seq lymphoblastoid silent region 4043 [Gene]
  • LOC130007020:ATAC-STARR-seq lymphoblastoid silent region 4044 [Gene]
  • LOC130007021:ATAC-STARR-seq lymphoblastoid silent region 4045 [Gene]
  • LOC130007022:ATAC-STARR-seq lymphoblastoid silent region 4046 [Gene]
  • LOC130007023:ATAC-STARR-seq lymphoblastoid silent region 4047 [Gene]
  • LOC130007028:ATAC-STARR-seq lymphoblastoid silent region 4049 [Gene]
  • LOC130007031:ATAC-STARR-seq lymphoblastoid silent region 4052 [Gene]
  • ABCG4:ATP binding cassette subfamily G member 4 [Gene - OMIM - HGNC]
  • ATP5MG:ATP synthase membrane subunit g [Gene - OMIM - HGNC]
  • BCL9L:BCL9 like [Gene - OMIM - HGNC]
  • BLID:BH3-like motif containing, cell death inducer [Gene - OMIM - HGNC]
  • LOC126861355:BRD4-independent group 4 enhancer GRCh37_chr11:117738498-117739697 [Gene]
  • LOC126861356:BRD4-independent group 4 enhancer GRCh37_chr11:118014519-118015718 [Gene]
  • LOC126861357:BRD4-independent group 4 enhancer GRCh37_chr11:118111758-118112957 [Gene]
  • LOC126861358:BRD4-independent group 4 enhancer GRCh37_chr11:118220212-118221411 [Gene]
  • LOC126861360:BRD4-independent group 4 enhancer GRCh37_chr11:118972216-118973415 [Gene]
  • LOC126861361:BRD4-independent group 4 enhancer GRCh37_chr11:119228534-119229733 [Gene]
  • LOC126861377:BRD4-independent group 4 enhancer GRCh37_chr11:126208933-126210132 [Gene]
  • LOC126861378:BRD4-independent group 4 enhancer GRCh37_chr11:126923193-126924392 [Gene]
  • LOC126861379:BRD4-independent group 4 enhancer GRCh37_chr11:126924891-126926090 [Gene]
  • CXCR5:C-X-C motif chemokine receptor 5 [Gene - OMIM - HGNC]
  • C1QTNF5:C1q and TNF related 5 [Gene - OMIM - HGNC]
  • C2CD2L:C2CD2 like [Gene - OMIM - HGNC]
  • CD3D:CD3 delta subunit of T-cell receptor complex [Gene - OMIM - HGNC]
  • CD3E:CD3 epsilon subunit of T-cell receptor complex [Gene - OMIM - HGNC]
  • CD3G:CD3 gamma subunit of T-cell receptor complex [Gene - OMIM - HGNC]
  • LOC121392945:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:118869213-118870412 [Gene]
  • LOC126861362:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:119813277-119814476 [Gene]
  • LOC112042780:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:119995312-119996511 [Gene]
  • LOC126861364:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:120744786-120745985 [Gene]
  • LOC126861367:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:121421721-121422920 [Gene]
  • LOC126861372:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:123599312-123600511 [Gene]
  • LOC126861373:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:123711437-123712636 [Gene]
  • LOC126861374:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:124275254-124276453 [Gene]
  • LOC126861375:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:124952423-124953622 [Gene]
  • LOC126861376:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:125278650-125279849 [Gene]
  • CENATAC-DT:CENATAC divergent transcript [Gene - HGNC]
  • LOC116225303:CRISPRi-validated cis-regulatory element chr11.5498 [Gene]
  • LOC116225304:CRISPRi-validated cis-regulatory element chr11.5907 [Gene]
  • LOC116225305:CRISPRi-validated cis-regulatory element chr11.5909 [Gene]
  • LOC116225306:CRISPRi-validated cis-regulatory element chr11.5910 [Gene]
  • CLMP:CXADR like membrane protein [Gene - OMIM - HGNC]
  • CBL:Cbl proto-oncogene [Gene - OMIM - HGNC]
  • DDX25:DEAD-box helicase 25 [Gene - OMIM - HGNC]
  • DDX6:DEAD-box helicase 6 [Gene - OMIM - HGNC]
  • DSCAML1:DS cell adhesion molecule like 1 [Gene - OMIM - HGNC]
  • EI24:EI24 autophagy associated transmembrane protein [Gene - OMIM - HGNC]
  • ESAM-AS1:ESAM antisense RNA 1 [Gene - HGNC]
  • FOXRED1:FAD dependent oxidoreductase domain containing 1 [Gene - OMIM - HGNC]
  • FXYD2:FXYD domain containing ion transport regulator 2 [Gene - OMIM - HGNC]
  • FXYD6:FXYD domain containing ion transport regulator 6 [Gene - OMIM - HGNC]
  • FXYD6-AS1:FXYD6 antisense RNA 1 [Gene - HGNC]
  • FXYD6-FXYD2:FXYD6-FXYD2 readthrough [Gene - HGNC]
  • GSEC:G-quadruplex forming sequence containing lncRNA [Gene - HGNC]
  • GRAMD1B:GRAM domain containing 1B [Gene - OMIM - HGNC]
  • H2AX:H2A.X variant histone [Gene - OMIM - HGNC]
  • LOC111365219:HNF4 motif-containing MPRA enhancer 115 [Gene]
  • LOC111413012:HNF4 motif-containing MPRA enhancer 139 [Gene]
  • LOC111429625:HNF4 motif-containing MPRA enhancer 223 [Gene]
  • LOC111465015:HNF4 motif-containing MPRA enhancer 256 [Gene]
  • HYLS1:HYLS1 centriolar and ciliogenesis associated [Gene - OMIM - HGNC]
  • HYOU1-AS1:HYOU1 antisense RNA 1 [Gene - HGNC]
  • KIRREL3-AS1:KIRREL3 antisense RNA 1 [Gene - HGNC]
  • KIRREL3-AS2:KIRREL3 antisense RNA 2 [Gene - HGNC]
  • KIRREL3-AS3:KIRREL3 antisense RNA 3 [Gene - HGNC]
  • LOC126861354:MED14-independent group 3 enhancer GRCh37_chr11:117712427-117713626 [Gene]
  • LOC112042784:MED14-independent group 3 enhancer GRCh37_chr11:121559556-121560755 [Gene]
  • LOC126861369:MED14-independent group 3 enhancer GRCh37_chr11:122050835-122052034 [Gene]
  • LOC126861380:MED14-independent group 3 enhancer GRCh37_chr11:127180643-127181842 [Gene]
  • LOC129390368:MPRA-validated peak1488 silencer [Gene]
  • LOC129390369:MPRA-validated peak1491 silencer [Gene]
  • LOC129390370:MPRA-validated peak1494 silencer [Gene]
  • LOC129390371:MPRA-validated peak1498 silencer [Gene]
  • LOC129390372:MPRA-validated peak1499 silencer [Gene]
  • LOC129390373:MPRA-validated peak1502 silencer [Gene]
  • LOC129390374:MPRA-validated peak1503 silencer [Gene]
  • LOC129390375:MPRA-validated peak1506 silencer [Gene]
  • MSANTD2-AS1:MSANTD2 antisense RNA 1 [Gene - HGNC]
  • MSANTD2:Myb/SANT DNA binding domain containing 2 [Gene - HGNC]
  • NECTIN1-AS1:NECTIN1 antisense RNA 1 [Gene - HGNC]
  • NECTIN1-DT:NECTIN1 divergent transcript [Gene - HGNC]
  • NHERF4:NHERF family PDZ scaffold protein 4 [Gene - OMIM - HGNC]
  • NLRX1:NLR family member X1 [Gene - OMIM - HGNC]
  • LOC132089900:Neanderthal introgressed variant-containing enhancer experimental_19102 [Gene]
  • LOC132089901:Neanderthal introgressed variant-containing enhancer experimental_19132 [Gene]
  • LOC132089902:Neanderthal introgressed variant-containing enhancer experimental_19171 [Gene]
  • LOC132089903:Neanderthal introgressed variant-containing enhancer experimental_19207 [Gene]
  • LOC132089904:Neanderthal introgressed variant-containing enhancer experimental_19222 [Gene]
  • LOC132090842:Neanderthal introgressed variant-containing enhancer experimental_19319 [Gene]
  • LOC132089905:Neanderthal introgressed variant-containing enhancer experimental_19353 [Gene]
  • LOC132089906:Neanderthal introgressed variant-containing enhancer experimental_19417 [Gene]
  • LOC132089907:Neanderthal introgressed variant-containing enhancer experimental_19685 [Gene]
  • LOC132211105:Neanderthal introgressed variant-containing enhancers experimental_19560 and experimental_19565 [Gene]
  • LOC126861359:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:118782402-118783601 [Gene]
  • LOC126861363:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:119952219-119953418 [Gene]
  • LOC126861365:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121000154-121001353 [Gene]
  • LOC126861366:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121336477-121337676 [Gene]
  • LOC126861368:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:121465964-121467163 [Gene]
  • LOC126861370:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:122067486-122068685 [Gene]
  • LOC126861371:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr11:122292931-122294130 [Gene]
  • PKNOX2:PBX/knotted 1 homeobox 2 [Gene - OMIM - HGNC]
  • PKNOX2-AS1:PKNOX2 antisense RNA 1 [Gene - HGNC]
  • PKNOX2-DT:PKNOX2 divergent transcript [Gene - HGNC]
  • POU2F3:POU class 2 homeobox 3 [Gene - OMIM - HGNC]
  • RPUSD4:RNA pseudouridine synthase D4 [Gene - OMIM - HGNC]
  • ARHGEF12:Rho guanine nucleotide exchange factor 12 [Gene - OMIM - HGNC]
  • SORL1-AS1:SORL1 antisense RNA 1 [Gene - HGNC]
  • LOC114803469:SORL1 eExon liver enhancer [Gene]
  • SRPRA:SRP receptor subunit alpha [Gene - OMIM - HGNC]
  • ST3GAL4:ST3 beta-galactoside alpha-2,3-sialyltransferase 4 [Gene - OMIM - HGNC]
  • STT3A:STT3 oligosaccharyltransferase complex catalytic subunit A [Gene - OMIM - HGNC]
  • STT3A-AS1:STT3A antisense RNA 1 [Gene - HGNC]
  • LOC121392944:Sharpr-MPRA regulatory region 10010 [Gene]
  • LOC124625850:Sharpr-MPRA regulatory region 10108 [Gene]
  • LOC124625864:Sharpr-MPRA regulatory region 10426 [Gene]
  • LOC112061819:Sharpr-MPRA regulatory region 10895 [Gene]
  • LOC112042779:Sharpr-MPRA regulatory region 11099 [Gene]
  • LOC124625857:Sharpr-MPRA regulatory region 1125 [Gene]
  • LOC112042778:Sharpr-MPRA regulatory region 11464 [Gene]
  • LOC124625851:Sharpr-MPRA regulatory region 11577 [Gene]
  • LOC124625848:Sharpr-MPRA regulatory region 1172 [Gene]
  • LOC124625852:Sharpr-MPRA regulatory region 12917 [Gene]
  • LOC121392946:Sharpr-MPRA regulatory region 12960 [Gene]
  • LOC124625849:Sharpr-MPRA regulatory region 13014 [Gene]
  • LOC124625865:Sharpr-MPRA regulatory region 13231 [Gene]
  • LOC121392948:Sharpr-MPRA regulatory region 13304 [Gene]
  • LOC112061821:Sharpr-MPRA regulatory region 13423 [Gene]
  • LOC112042786:Sharpr-MPRA regulatory region 13459 [Gene]
  • LOC112042777:Sharpr-MPRA regulatory region 14251 [Gene]
  • LOC124625856:Sharpr-MPRA regulatory region 14714 [Gene]
  • LOC124625859:Sharpr-MPRA regulatory region 15688 [Gene]
  • LOC124625853:Sharpr-MPRA regulatory region 1830 [Gene]
  • LOC124625862:Sharpr-MPRA regulatory region 2144 [Gene]
  • LOC124625861:Sharpr-MPRA regulatory region 2909 [Gene]
  • LOC124625866:Sharpr-MPRA regulatory region 4861 [Gene]
  • LOC112042783:Sharpr-MPRA regulatory region 564 [Gene]
  • LOC124625854:Sharpr-MPRA regulatory region 5837 [Gene]
  • LOC112061820:Sharpr-MPRA regulatory region 5906 [Gene]
  • LOC121392947:Sharpr-MPRA regulatory region 6199 [Gene]
  • LOC124625867:Sharpr-MPRA regulatory region 6222 [Gene]
  • LOC124625855:Sharpr-MPRA regulatory region 6864 [Gene]
  • LOC124625863:Sharpr-MPRA regulatory region 8813 [Gene]
  • LOC112042785:Sharpr-MPRA regulatory region 9139 [Gene]
  • LOC124625860:Sharpr-MPRA regulatory region 9541 [Gene]
  • LOC124625858:Sharpr-MPRA regulatory region 995 [Gene]
  • TBCEL-TECTA:TBCEL-TECTA readthrough [Gene - HGNC]
  • TIRAP:TIR domain containing adaptor protein [Gene - OMIM - HGNC]
  • TIRAP-AS1:TIRAP antisense RNA 1 [Gene - HGNC]
  • TLCD5:TLC domain containing 5 [Gene - HGNC]
  • TTC36-AS1:TTC36 and KMT2A antisense RNA 1 [Gene - HGNC]
  • THY1:Thy-1 cell surface antigen [Gene - OMIM - HGNC]
  • USP2-AS1:USP2 antisense RNA 1 [Gene - HGNC]
  • VSIG10L2:V-set and immunoglobulin domain containing 10 like 2 [Gene - HGNC]
  • VSIG2:V-set and immunoglobulin domain containing 2 [Gene - OMIM - HGNC]
  • LOC110121418:VISTA enhancer hs1641 [Gene]
  • LOC110121460:VISTA enhancer hs1915 [Gene]
  • LOC110120944:VISTA enhancer hs872 [Gene]
  • VPS11:VPS11 core subunit of CORVET and HOPS complexes [Gene - OMIM - HGNC]
  • ACRV1:acrosomal vesicle protein 1 [Gene - OMIM - HGNC]
  • ARCN1:archain 1 [Gene - OMIM - HGNC]
  • BSX:brain specific homeobox [Gene - OMIM - HGNC]
  • CDON:cell adhesion associated, oncogene regulated [Gene - OMIM - HGNC]
  • CENATAC:centrosomal AT-AC splicing factor [Gene - OMIM - HGNC]
  • CEP164:centrosomal protein 164 [Gene - OMIM - HGNC]
  • CHEK1:checkpoint kinase 1 [Gene - OMIM - HGNC]
  • CCDC15:coiled-coil domain containing 15 [Gene - HGNC]
  • CRTAM:cytotoxic and regulatory T cell molecule [Gene - OMIM - HGNC]
  • DCPS:decapping enzyme, scavenger [Gene - OMIM - HGNC]
  • DPAGT1:dolichyl-phosphate N-acetylglucosaminephosphotransferase 1 [Gene - OMIM - HGNC]
  • DRC12:dynein regulatory complex subunit 12 homolog [Gene - HGNC]
  • ESAM:endothelial cell adhesion molecule [Gene - OMIM - HGNC]
  • FAM118B:family with sequence similarity 118 member B [Gene - OMIM - HGNC]
  • FEZ1:fasciculation and elongation protein zeta 1 [Gene - OMIM - HGNC]
  • FOXR1:forkhead box R1 [Gene - OMIM - HGNC]
  • FRA11B:fragile site, folic acid type, rare, fra(11)(q23.3) [Gene - OMIM - HGNC]
  • GRIK4:glutamate ionotropic receptor kainate type subunit 4 [Gene - OMIM - HGNC]
  • HSPA8:heat shock protein family A (Hsp70) member 8 [Gene - OMIM - HGNC]
  • HEPACAM:hepatic and glial cell adhesion molecule [Gene - OMIM - HGNC]
  • HEPN1:hepatocellular carcinoma, down-regulated 1 [Gene - OMIM - HGNC]
  • HINFP:histone H4 transcription factor [Gene - OMIM - HGNC]
  • HMBS:hydroxymethylbilane synthase [Gene - OMIM - HGNC]
  • HYOU1:hypoxia up-regulated 1 [Gene - OMIM - HGNC]
  • IL10RA:interleukin 10 receptor subunit alpha [Gene - OMIM - HGNC]
  • IFT46:intraflagellar transport 46 [Gene - OMIM - HGNC]
  • JAML:junction adhesion molecule like [Gene - OMIM - HGNC]
  • JHY:junctional cadherin complex regulator [Gene - OMIM - HGNC]
  • KIRREL3:kirre like nephrin family adhesion molecule 3 [Gene - OMIM - HGNC]
  • LINC02712:long intergenic non-protein coding RNA 2712 [Gene - HGNC]
  • LINC02727:long intergenic non-protein coding RNA 2727 [Gene - HGNC]
  • LINC02744:long intergenic non-protein coding RNA 2744 [Gene - HGNC]
  • KMT2A:lysine methyltransferase 2A [Gene - OMIM - HGNC]
  • MCAM:melanoma cell adhesion molecule [Gene - OMIM - HGNC]
  • LOC128772364:melanoma risk locus-associated MPRA allelic enhancer 11:120184592 [Gene]
  • LOC128772365:melanoma risk locus-associated MPRA allelic enhancer 11:120195689 [Gene]
  • LOC128772366:melanoma risk locus-associated MPRA allelic enhancer 11:120249395 [Gene]
  • LOC128772367:melanoma risk locus-associated MPRA allelic enhancer 11:120288060 [Gene]
  • LOC128772368:melanoma risk locus-associated MPRA allelic enhancer 11:120305787 [Gene]
  • LOC128772369:melanoma risk locus-associated MPRA allelic enhancer 11:120306759 [Gene]
  • LOC128772370:melanoma risk locus-associated MPRA allelic enhancer 11:120313899 [Gene]
  • LOC128772371:melanoma risk locus-associated MPRA allelic enhancer 11:120345004 [Gene]
  • LOC128772372:melanoma risk locus-associated MPRA allelic enhancer 11:120350393 [Gene]
  • LOC128772373:melanoma risk locus-associated MPRA allelic enhancer 11:120356317 [Gene]
  • MFRP:membrane frizzled-related protein [Gene - OMIM - HGNC]
  • MIR100:microRNA 100 [Gene - OMIM - HGNC]
  • MIR10526:microRNA 10526 [Gene - HGNC]
  • MIR125B1:microRNA 125b-1 [Gene - OMIM - HGNC]
  • MIR3167:microRNA 3167 [Gene - HGNC]
  • MIR4492:microRNA 4492 [Gene - HGNC]
  • MIR4493:microRNA 4493 [Gene - HGNC]
  • MIR6716:microRNA 6716 [Gene - HGNC]
  • MIR6756:microRNA 6756 [Gene - HGNC]
  • MIRLET7A2:microRNA let-7a-2 [Gene - OMIM - HGNC]
  • MIR100HG:mir-100-let-7a-2-mir-125b-1 cluster host gene [Gene - OMIM - HGNC]
  • MPZL2:myelin protein zero like 2 [Gene - OMIM - HGNC]
  • MPZL3:myelin protein zero like 3 [Gene - OMIM - HGNC]
  • NECTIN1:nectin cell adhesion molecule 1 [Gene - OMIM - HGNC]
  • NRGN:neurogranin [Gene - OMIM - HGNC]
  • OR10D3:olfactory receptor family 10 subfamily D member 3 [Gene - HGNC]
  • OR10G4:olfactory receptor family 10 subfamily G member 4 [Gene - HGNC]
  • OR10G6:olfactory receptor family 10 subfamily G member 6 [Gene - HGNC]
  • OR10G7:olfactory receptor family 10 subfamily G member 7 [Gene - HGNC]
  • OR10G8:olfactory receptor family 10 subfamily G member 8 [Gene - HGNC]
  • OR10G9:olfactory receptor family 10 subfamily G member 9 [Gene - HGNC]
  • OR10S1:olfactory receptor family 10 subfamily S member 1 [Gene - HGNC]
  • OR4D5:olfactory receptor family 4 subfamily D member 5 [Gene - HGNC]
  • OR6M1:olfactory receptor family 6 subfamily M member 1 [Gene - HGNC]
  • OR6T1:olfactory receptor family 6 subfamily T member 1 [Gene - HGNC]
  • OR6X1:olfactory receptor family 6 subfamily X member 1 [Gene - HGNC]
  • OR8A1:olfactory receptor family 8 subfamily A member 1 [Gene - HGNC]
  • OR8B12:olfactory receptor family 8 subfamily B member 12 [Gene - HGNC]
  • OR8B2:olfactory receptor family 8 subfamily B member 2 [Gene - HGNC]
  • OR8B3:olfactory receptor family 8 subfamily B member 3 [Gene - HGNC]
  • OR8B4:olfactory receptor family 8 subfamily B member 4 [Gene - HGNC]
  • OR8B8:olfactory receptor family 8 subfamily B member 8 [Gene - HGNC]
  • OR8D1:olfactory receptor family 8 subfamily D member 1 [Gene - HGNC]
  • OR8D2:olfactory receptor family 8 subfamily D member 2 [Gene - HGNC]
  • OR8D4:olfactory receptor family 8 subfamily D member 4 [Gene - HGNC]
  • OR8G1:olfactory receptor family 8 subfamily G member 1 [Gene - HGNC]
  • OR8G3P:olfactory receptor family 8 subfamily G member 3 pseudogene [Gene - HGNC]
  • OR8G5:olfactory receptor family 8 subfamily G member 5 [Gene - HGNC]
  • OAF:out at first homolog [Gene - HGNC]
  • PANX3:pannexin 3 [Gene - OMIM - HGNC]
  • PHLDB1:pleckstrin homology like domain family B member 1 [Gene - OMIM - HGNC]
  • PATE1:prostate and testis expressed 1 [Gene - OMIM - HGNC]
  • PATE2:prostate and testis expressed 2 [Gene - HGNC]
  • PATE3:prostate and testis expressed 3 [Gene - HGNC]
  • PATE4:prostate and testis expressed 4 [Gene - HGNC]
  • PUS3:pseudouridine synthase 3 [Gene - OMIM - HGNC]
  • LOC403312:putative uncharacterized protein MGC39545 [Gene]
  • RPS25:ribosomal protein S25 [Gene - OMIM - HGNC]
  • RNF26:ring finger protein 26 [Gene - OMIM - HGNC]
  • ROBO3:roundabout guidance receptor 3 [Gene - OMIM - HGNC]
  • ROBO4:roundabout guidance receptor 4 [Gene - OMIM - HGNC]
  • SIAE:sialic acid acetylesterase [Gene - OMIM - HGNC]
  • SMIM35:small integral membrane protein 35 [Gene - HGNC]
  • SNORD14C:small nucleolar RNA, C/D box 14C [Gene - HGNC]
  • SNORD14D:small nucleolar RNA, C/D box 14D [Gene - HGNC]
  • SNORD14E:small nucleolar RNA, C/D box 14E [Gene - HGNC]
  • SNORD150:small nucleolar RNA, C/D box 150 [Gene - HGNC]
  • SCN2B:sodium voltage-gated channel beta subunit 2 [Gene - OMIM - HGNC]
  • SCN3B:sodium voltage-gated channel beta subunit 3 [Gene - OMIM - HGNC]
  • SCN4B:sodium voltage-gated channel beta subunit 4 [Gene - OMIM - HGNC]
  • SLC37A2:solute carrier family 37 member 2 [Gene - OMIM - HGNC]
  • SLC37A4:solute carrier family 37 member 4 [Gene - OMIM - HGNC]
  • SORL1:sortilin related receptor 1 [Gene - OMIM - HGNC]
  • SPA17:sperm autoantigenic protein 17 [Gene - OMIM - HGNC]
  • SC5D:sterol-C5-desaturase [Gene - OMIM - HGNC]
  • TRK-TTT2-1:tRNA-Lys (anticodon TTT) 2-1 [Gene - HGNC]
  • TECTA:tectorin alpha [Gene - OMIM - HGNC]
  • TTC36:tetratricopeptide repeat domain 36 [Gene - OMIM - HGNC]
  • TRAPPC4:trafficking protein particle complex subunit 4 [Gene - OMIM - HGNC]
  • TBRG1:transforming growth factor beta regulator 1 [Gene - OMIM - HGNC]
  • TMEM218:transmembrane protein 218 [Gene - OMIM - HGNC]
  • TMEM225:transmembrane protein 225 [Gene - HGNC]
  • TMEM25:transmembrane protein 25 [Gene - OMIM - HGNC]
  • TMPRSS13:transmembrane serine protease 13 [Gene - OMIM - HGNC]
  • TMPRSS4:transmembrane serine protease 4 [Gene - OMIM - HGNC]
  • TREH:trehalase [Gene - OMIM - HGNC]
  • TRIM29:tripartite motif containing 29 [Gene - OMIM - HGNC]
  • TBCEL:tubulin folding cofactor E like [Gene - OMIM - HGNC]
  • UBASH3B:ubiquitin associated and SH3 domain containing B [Gene - OMIM - HGNC]
  • USP2:ubiquitin specific peptidase 2 [Gene - OMIM - HGNC]
  • UBE4A:ubiquitination factor E4A [Gene - OMIM - HGNC]
  • LOC100131626:uncharacterized LOC100131626 [Gene]
  • LOC101929208:uncharacterized LOC101929208 [Gene]
  • LOC101929227:uncharacterized LOC101929227 [Gene]
  • LOC101929427:uncharacterized LOC101929427 [Gene]
  • LOC101929473:uncharacterized LOC101929473 [Gene]
  • LOC105369532:uncharacterized LOC105369532 [Gene]
  • LOC105369535:uncharacterized LOC105369535 [Gene]
  • LOC105369558:uncharacterized LOC105369558 [Gene]
  • LOC107984399:uncharacterized LOC107984399 [Gene]
  • LOC118567325:uncharacterized LOC118567325 [Gene]
  • LOC649133:uncharacterized LOC649133 [Gene]
  • UPK2:uroplakin 2 [Gene - OMIM - HGNC]
  • VWA5A:von Willebrand factor A domain containing 5A [Gene - OMIM - HGNC]
  • ZNF202:zinc finger protein 202 [Gene - OMIM - HGNC]
Variant type:
copy number gain
Cytogenetic location:
11q23.3-24.2
Genomic location:
Preferred name:
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3
HGVS:
  • NC_000011.10:g.(?_117333952)_(127709156_?)dup
  • NC_000011.8:g.(?_116709878)_(127084261_?)dup
  • NC_000011.9:g.(?_117204668)_(127579051_?)dup
Links:
dbVar: nssv1604355; dbVar: nsv916803
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
SCV000179901ISCA site 1

See additional submitters

no assertion criteria provided
Pathogenic
(Jul 5, 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, SCV000179901.4

#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