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Items: 1 to 20 of 485

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7146170copy number variation1nstd232human GRCh37.p13 chr1: 212,530,409-212,530,495 , GRCh38.p12 chr1: 212,357,067-212,357,153 PPP2R5A
    nsv7099262copy number variation1nstd231human GRCh38.p12 chr1: 211,826,028-221,140,287 , GRCh37 chr1: 211,999,370-221,313,629 ATF3, CENPF, 114 more genes
    nsv7040987inversion1nstd229human GRCh38 chr1: 210,564,176-212,658,793 , GRCh37.p13 chr1: 210,737,520-212,832,135 LPGAT1, RFKP5, 44 more genes
    nsv6672963copy number variation1nstd229human GRCh38 chr1: 212,291,391-212,295,065 , GRCh37.p13 chr1: 212,464,733-212,468,407 PPP2R5A
    nsv6665173copy number variation1nstd229human GRCh38 chr1: 212,351,530-212,351,869 , GRCh37.p13 chr1: 212,524,872-212,525,211 PPP2R5A, SNORA16B
    nsv6664366copy number variation1nstd229human GRCh38 chr1: 212,281,192-212,341,337 , GRCh37.p13 chr1: 212,454,534-212,514,679 LINC02608, PPP2R5A, 1 more genes
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 more genes
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6550016inversion1nstd223human GRCh38 chr1: 212,351,515-212,352,127 , GRCh37.p13 chr1: 212,524,857-212,525,469 SNORA16B, PPP2R5A
    nsv6548061inversion1nstd223human GRCh38 chr1: 212,338,654-212,339,453 , GRCh37.p13 chr1: 212,511,996-212,512,795 PPP2R5A
    nsv6546474inversion1nstd223human GRCh38 chr1: 212,282,556-212,283,649 , GRCh37.p13 chr1: 212,455,898-212,456,991 LINC02608, PPP2R5A
    nsv6541575inversion1nstd223human GRCh38 chr1: 212,350,920-212,352,424 , GRCh37.p13 chr1: 212,524,262-212,525,766 SNORA16B, PPP2R5A
    nsv6334218copy number variation1nstd223human GRCh38 chr1: 212,362,041-212,362,417 , GRCh37.p13 chr1: 212,535,383-212,535,759 PPP2R5A, PACC1
    nsv6332839copy number variation1nstd223human GRCh38 chr1: 212,348,601-212,350,100 , GRCh37.p13 chr1: 212,521,943-212,523,442 PPP2R5A
    nsv6325553copy number variation1nstd223human GRCh38 chr1: 209,453,567-212,914,449 , GRCh37.p13 chr1: 209,626,912-213,087,791 ST13P19, RPS5P4, 74 more genes
    nsv6321244copy number variation1nstd223human GRCh38 chr1: 212,297,811-212,299,273 , GRCh37.p13 chr1: 212,471,153-212,472,615 PPP2R5A
    nsv6293099mobile element insertion1nstd186human GRCh37 chr1: 212,506,058-212,506,109 , GRCh38.p12 chr1: 212,332,716-212,332,767 PPP2R5A
    nsv6291634copy number variation1nstd102humanUncertain significance GRCh38 chr1: 212,337,801-213,362,035 , GRCh37.p13 chr1: 212,511,143-213,535,378 ANGEL2, ATF3, 21 more genes
    nsv6214789insertion1nstd214human GRCh38 chr1: 212,302,963-212,302,963 , GRCh37.p13 chr1: 212,476,305-212,476,305 PPP2R5A
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