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Items: 1 to 20 of 345

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5936053copy number variation1nstd209human GRCh38 chr13: 57,688,088-57,694,204 , GRCh37.p13 chr13: 58,262,222-58,268,338 PCDH17
    nsv5861706copy number variation1nstd209human GRCh38 chr13: 57,688,096-57,693,204 , GRCh37.p13 chr13: 58,262,230-58,267,338 PCDH17
    nsv5850804copy number variation1nstd209human GRCh38 chr13: 57,693,155-57,699,665 , GRCh37.p13 chr13: 58,267,289-58,273,799 PCDH17
    nsv5564510copy number variation1nstd102humanPathogenic GRCh37 chr13: 19,053,605-115,108,528 , GRCh38.p12 chr13: 18,479,465-114,343,053 RN7SL272P, DIAPH3, 1333 more genes
    nsv5512839copy number variation1nstd206human GRCh38 chr13: 57,649,789-57,649,900 , GRCh37.p13 chr13: 58,223,923-58,224,034 PCDH17
    nsv5503930copy number variation1nstd206human GRCh38 chr13: 57,655,987-57,657,578 , GRCh37.p13 chr13: 58,230,121-58,231,712 PCDH17
    nsv5356940translocation1nstd200human GRCh38 chr13: 57,671,740-57,671,740 , GRCh38 chr13: 57,671,817-57,671,817 , GRCh37.p13 chr13: 58,245,874-58,245,874 , GRCh37.p13 chr13: 58,245,951-58,245,951 PCDH17
    nsv5334580translocation1nstd200human GRCh37 chr13: 58,292,119-58,292,119 , GRCh37 chr13: 58,292,901-58,292,901 , GRCh38.p12 chr13: 57,717,985-57,717,985 , GRCh38.p12 chr13: 57,718,767-57,718,767 PCDH17
    nsv5325859translocation1nstd204human GRCh38.p13 chr13: 57,717,985-57,717,985 , GRCh38.p13 chr13: 57,718,767-57,718,767 , GRCh37.p13 chr13: 58,292,119-58,292,119 , GRCh37.p13 chr13: 58,292,901-58,292,901 PCDH17
    nsv5276328copy number variation1nstd204human GRCh38.p13 chr13: 57,689,701-57,699,300 , GRCh37.p13 chr13: 58,263,835-58,273,434 PCDH17
    nsv5265744copy number variation1nstd204human GRCh38.p13 chr13: 57,690,001-57,694,800 , GRCh37.p13 chr13: 58,264,135-58,268,934 PCDH17
    nsv5156906mobile element insertion1nstd203human GRCh38 chr13: 57,638,669-57,638,681 , GRCh37.p13 chr13: 58,212,803-58,212,815 PCDH17
    nsv5150118mobile element insertion1nstd203human GRCh38 chr13: 57,660,785-57,660,795 , GRCh37.p13 chr13: 58,234,919-58,234,929 PCDH17
    nsv5034873inversion1nstd200human GRCh38 chr13: 55,150,893-76,780,363 , GRCh37.p13 chr13: 55,725,028-77,354,498 , PRR20C, 199 more genes
    nsv5006686copy number variation1nstd200human GRCh38 chr13: 57,717,985-57,718,767 , GRCh37.p13 chr13: 58,292,119-58,292,901 PCDH17
    nsv5006685copy number variation1nstd200human GRCh38 chr13: 57,705,304-57,705,377 , GRCh37.p13 chr13: 58,279,438-58,279,511 PCDH17
    nsv5006576copy number variation1nstd200human GRCh38 chr13: 54,973,318-57,852,547 , GRCh37.p13 chr13: 55,547,453-58,426,681 PRR20C, RN7SKP6, 15 more genes
    nsv5004622copy number variation1nstd200human GRCh38 chr13: 57,675,689-57,722,108 , GRCh37.p13 chr13: 58,249,823-58,296,242 PCDH17
    nsv4872325inversion1nstd200human GRCh37 chr13: 55,725,028-77,354,498 , GRCh38.p12 chr13: 55,150,893-76,780,363 , OR7E111P, 199 more genes
    nsv4729389copy number variation1nstd102humanUncertain significance GRCh37 chr13: 55,143,754-58,453,133 , GRCh38.p12 chr13: 54,569,619-57,878,999 PRR20E, PRR20B, 16 more genes
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