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Items: 1 to 20 of 176

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5973346inversion1nstd209human GRCh38 chr12: 118,054,601-123,705,841 , GRCh37.p13 chr12: 118,492,406-124,190,388 , ACADS, 162 more genes
    nsv5710938mobile element insertion1nstd211human GRCh38 chr12: 123,601,541-123,601,541 , GRCh37.p13 chr12: 124,086,088-124,086,088 DDX55
    nsv5660843insertion1nstd207human GRCh38 chr12: 123,609,634-123,609,634 , GRCh37.p13 chr12: 124,094,181-124,094,181 DDX55
    nsv5554481sequence alteration1nstd206human GRCh38 chr12: 123,600,071-123,600,714 , GRCh37.p13 chr12: 124,084,618-124,085,261 DDX55
    nsv5381782copy number variation1nstd102humanPathogenic GRCh37 chr12: 123,878,845-126,829,341 , GRCh38.p12 chr12: 123,394,298-126,344,795 DDX55, ZNF664, 55 more genes
    nsv5365258translocation1nstd200human GRCh38 chr12: 123,600,714-123,600,714 , GRCh38 chr12: 123,600,072-123,600,072 , GRCh37.p13 chr12: 124,084,619-124,084,619 , GRCh37.p13 chr12: 124,085,261-124,085,261 DDX55
    nsv5333780translocation1nstd200human GRCh37 chr12: 124,085,262-124,085,262 , GRCh37 chr12: 124,084,619-124,084,619 , GRCh38.p12 chr12: 123,600,715-123,600,715 , GRCh38.p12 chr12: 123,600,072-123,600,072 DDX55
    nsv5328857translocation1nstd204human GRCh38.p13 chr12: 123,600,072-123,600,072 , GRCh38.p13 chr12: 123,600,714-123,600,714 , GRCh37.p13 chr12: 124,085,261-124,085,261 , GRCh37.p13 chr12: 124,084,619-124,084,619 DDX55
    nsv5274976copy number variation1nstd204human GRCh38.p13 chr12: 123,116,301-123,767,100 , GRCh37.p13 chr12: 123,600,848-124,251,647 SNRNP35, KMT5A, 25 more genes
    nsv4993829copy number variation1nstd200human GRCh38 chr12: 123,619,054-123,638,999 , GRCh37.p13 chr12: 124,103,601-124,123,546 GTF2H3, DDX55, 1 more genes
    nsv4833920copy number variation1nstd200human GRCh37 chr12: 124,103,582-124,123,565 , GRCh38.p12 chr12: 123,619,035-123,639,018 GTF2H3, EIF2B1, 1 more genes
    nsv4756208inversion1nstd199human GRCh37 chr12: 104,359,633-125,801,147 , GRCh38.p12 chr12: 103,965,855-125,316,601 , ACACB, 453 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4754840inversion1nstd199human GRCh37 chr12: 104,382,539-125,801,164 , GRCh38.p12 chr12: 103,988,761-125,316,618 , ACACB, 452 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4729050copy number variation1nstd102humanUncertain significance GRCh37 chr12: 123,807,132-124,299,781 , GRCh38.p12 chr12: 123,322,585-123,815,234 RILPL1, LOC105370041, 20 more genes
    nsv4617911copy number variation1nstd183human GRCh37 chr12: 123,799,974-124,107,015 , GRCh38.p12 chr12: 123,315,427-123,622,468 MIR3908, RILPL1, 13 more genes
    nsv4611597copy number variation1nstd183human GRCh37 chr12: 124,082,554-124,110,369 , GRCh38.p12 chr12: 123,598,007-123,625,822 EIF2B1, DDX55, 3 more genes
    nsv4604373copy number variation1nstd183human GRCh37 chr12: 124,056,116-124,127,264 , GRCh38.p12 chr12: 123,571,569-123,642,717 EIF2B1, GTF2H3, 5 more genes
    nsv4572709sequence alteration1nstd166human GRCh37.p13 chr12: 124,084,591-124,085,261 , GRCh38.p12 chr12: 123,600,044-123,600,714 DDX55
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