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Items: 1 to 20 of 270

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5949128insertion1nstd209human GRCh38 chr8: 53,755,731-53,755,731 , GRCh37.p13 chr8: 54,668,291-54,668,291 ATP6V1H
    nsv5726146mobile element insertion2nstd211human GRCh38 chr8: 53,838,139-53,838,139 , GRCh37.p13 chr8: 54,750,699-54,750,699 ATP6V1H
    nsv5708634mobile element insertion1nstd211human GRCh38 chr8: 53,776,509-53,776,509 , GRCh37.p13 chr8: 54,689,069-54,689,069 ATP6V1H
    nsv5478856copy number variation1nstd206human GRCh38 chr8: 53,783,836-53,783,889 , GRCh37.p13 chr8: 54,696,396-54,696,449 ATP6V1H
    nsv5478527copy number variation1nstd206human GRCh38 chr8: 53,819,619-53,819,688 , GRCh37.p13 chr8: 54,732,179-54,732,248 ATP6V1H
    nsv5477802copy number variation1nstd206human GRCh38 chr8: 53,755,691-53,756,055 , GRCh37.p13 chr8: 54,668,251-54,668,615 ATP6V1H
    nsv5474955copy number variation1nstd206human GRCh38 chr8: 53,819,654-53,819,714 , GRCh37.p13 chr8: 54,732,214-54,732,274 ATP6V1H
    nsv5411573mobile element insertion1nstd206human GRCh38 chr8: 53,776,509-53,776,537 , GRCh37.p13 chr8: 54,689,069-54,689,097 ATP6V1H
    nsv5371679translocation1nstd200human GRCh38 chr8: 53,756,040-53,756,040 , GRCh38 chr8: 53,755,691-53,755,691 , GRCh37.p13 chr8: 54,668,251-54,668,251 , GRCh37.p13 chr8: 54,668,600-54,668,600 ATP6V1H
    nsv5340117translocation1nstd200human GRCh37 chr8: 54,668,600-54,668,600 , GRCh37 chr8: 54,668,251-54,668,251 , GRCh38.p12 chr8: 53,756,040-53,756,040 , GRCh38.p12 chr8: 53,755,691-53,755,691 ATP6V1H
    nsv5119545mobile element insertion1nstd203human GRCh38 chr8: 53,755,709-53,755,744 , GRCh37.p13 chr8: 54,668,269-54,668,304 ATP6V1H
    nsv5110360mobile element insertion1nstd203human GRCh38 chr8: 53,774,894-53,774,906 , GRCh37.p13 chr8: 54,687,454-54,687,466 ATP6V1H
    nsv5104392mobile element insertion1nstd203human GRCh38 chr8: 53,755,717-53,755,765 , GRCh37.p13 chr8: 54,668,277-54,668,325 ATP6V1H
    nsv5103498mobile element insertion1nstd203human GRCh38 chr8: 53,755,721-53,755,744 , GRCh37.p13 chr8: 54,668,281-54,668,304 ATP6V1H
    nsv4952338copy number variation1nstd200human GRCh38 chr8: 53,836,022-53,844,087 , GRCh37.p13 chr8: 54,748,582-54,756,647 ATP6V1H
    nsv4952337copy number variation1nstd200human GRCh38 chr8: 53,829,518-53,833,077 , GRCh37.p13 chr8: 54,742,078-54,745,637 ATP6V1H
    nsv4952336copy number variation1nstd200human GRCh38 chr8: 53,780,811-53,790,872 , GRCh37.p13 chr8: 54,693,371-54,703,432 ATP6V1H
    nsv4742548copy number variation1nstd199human GRCh37 chr8: 54,732,206-54,732,257 , GRCh38.p12 chr8: 53,819,646-53,819,697 ATP6V1H
    nsv4729338copy number variation1nstd102humanUncertain significance GRCh37 chr8: 52,605,905-54,913,501 , GRCh38.p12 chr8: 51,693,345-54,000,941 RPL34P17, ATP6V1H, 26 more genes
    nsv4638591copy number variation1nstd186human GRCh37 chr8: 54,668,261-54,668,602 , GRCh38.p12 chr8: 53,755,701-53,756,042 ATP6V1H
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