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Items: 1 to 20 of 295

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112852mobile element insertion1nstd186human GRCh37 chr2: 178,543,831-178,543,882 , GRCh38.p12 chr2: 177,679,103-177,679,154 PDE11A-AS1, PDE11A
    nsv5953942insertion1nstd209human GRCh38 chr2: 177,679,087-177,679,087 , GRCh37.p13 chr2: 178,543,815-178,543,815 PDE11A, PDE11A-AS1
    nsv5894141copy number variation1nstd209human GRCh38 chr2: 177,685,103-177,714,810 , GRCh37.p13 chr2: 178,549,831-178,579,538 PDE11A-AS1, PDE11A
    nsv5831961copy number variation1nstd209human GRCh38 chr2: 177,685,063-177,711,223 , GRCh37.p13 chr2: 178,549,791-178,575,951 PDE11A, PDE11A-AS1
    nsv5718550mobile element insertion2nstd211human GRCh38 chr2: 177,682,048-177,682,048 , GRCh37.p13 chr2: 178,546,776-178,546,776 PDE11A-AS1, PDE11A
    nsv5683863mobile element insertion2nstd211human GRCh38 chr2: 177,679,103-177,679,103 , GRCh37.p13 chr2: 178,543,831-178,543,831 PDE11A, PDE11A-AS1
    nsv5682958mobile element insertion1nstd211human GRCh38 chr2: 177,681,450-177,681,450 , GRCh37.p13 chr2: 178,546,178-178,546,178 PDE11A, PDE11A-AS1
    nsv5674419mobile element insertion2nstd211human GRCh38 chr2: 177,716,607-177,716,607 , GRCh37.p13 chr2: 178,581,335-178,581,335 PDE11A-AS1, PDE11A
    nsv5610611insertion1nstd207human GRCh38 chr2: 177,679,087-177,679,087 , GRCh37.p13 chr2: 178,543,815-178,543,815 PDE11A-AS1, PDE11A
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5445514copy number variation1nstd206human GRCh38 chr2: 177,618,878-177,758,813 , GRCh37.p13 chr2: 178,483,606-178,623,541 IFT70A, PDE11A-AS1, 1 more genes
    nsv5444696copy number variation1nstd206human GRCh38 chr2: 177,685,103-177,714,812 , GRCh37.p13 chr2: 178,549,831-178,579,540 PDE11A, PDE11A-AS1
    nsv5440234copy number variation1nstd206human GRCh38 chr2: 177,689,484-177,689,538 , GRCh37.p13 chr2: 178,554,212-178,554,266 PDE11A, PDE11A-AS1
    nsv5438625copy number variation1nstd206human GRCh38 chr2: 177,678,291-177,678,366 , GRCh37.p13 chr2: 178,543,019-178,543,094 PDE11A, PDE11A-AS1
    nsv5404320mobile element insertion1nstd206human GRCh38 chr2: 177,716,607-177,716,658 , GRCh37.p13 chr2: 178,581,335-178,581,386 PDE11A, PDE11A-AS1
    nsv5398358mobile element insertion1nstd206human GRCh38 chr2: 177,679,103-177,679,154 , GRCh37.p13 chr2: 178,543,831-178,543,882 PDE11A, PDE11A-AS1
    nsv5381341copy number variation1nstd102humanPathogenic GRCh37 chr2: 171,999,572-182,774,361 , GRCh38.p12 chr2: 171,143,062-181,909,634 ALDH7A1P2, LOC101927055, 174 more genes
    nsv5366679translocation1nstd200human GRCh38 chr5: 91,572,334-91,572,334 , GRCh38 chr2: 177,679,534-177,679,534 , GRCh37.p13 chr5: 90,868,151-90,868,151 , GRCh37.p13 chr2: 178,544,262-178,544,262 PDE11A, PDE11A-AS1
    nsv5340210translocation1nstd200human GRCh37 chr2: 178,544,262-178,544,262 , GRCh37 chr5: 90,868,151-90,868,151 , GRCh38.p12 chr5: 91,572,334-91,572,334 , GRCh38.p12 chr2: 177,679,534-177,679,534 PDE11A, PDE11A-AS1
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