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Items: 1 to 20 of 214

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099266copy number variation1nstd231human GRCh38.p12 chr1: 226,993,371-235,936,592 , GRCh37 chr1: 227,181,072-236,099,892 ACTA1, AGT, 223 more genes
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7050434inversion1nstd229human GRCh38 chr1: 228,503,283-228,689,525 , GRCh37.p13 chr1: 228,690,984-228,825,272 RNA5SP18, RNA5S17, 22 more genes
    nsv6670489copy number variation1nstd229human GRCh38 chr1: 227,575,489-231,747,964 , GRCh37.p13 chr1: 227,763,190-231,883,710 FAM89A, RNA5S14, 127 more genes
    nsv6669351copy number variation1nstd229human GRCh38 chr1: 228,651,705-228,688,180 , GRCh37.p13 chr1: 228,787,452-228,823,927 DUSP5P1, RHOU, 1 more genes
    nsv6663744copy number variation1nstd229human GRCh38 chr1: 228,275,386-228,715,659 , GRCh37.p13 chr1: 228,463,087-228,851,406 RNA5S5, H2BC27P, 34 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
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
    nsv6636265copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 227,992,928-236,659,905 , GRCh38.p12 chr1: 227,805,227-236,496,605 ACTA1, AGT, 211 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
    nsv6626203copy number variation1nstd224human GRCh37 chr1: 228,784,907-228,916,634 , GRCh38.p12 chr1: 228,649,160-228,780,887 , GRCh38.p12 chr1|NW_018654708.1: 226,487-330,031 RHOU, LOC100421842, 2 more genes
    nsv6626177copy number variation1nstd224human GRCh37 chr1: 228,553,826-228,824,972 , GRCh38.p12 chr1: 228,366,125-228,689,225 , GRCh38.p12 chr1|NW_018654708.1: 1-266,227 TRIM17, H2BC26, 34 more genes
    nsv6313841copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,214,912-231,483,538 , GRCh38.p12 chr1: 228,027,211-231,347,792 ISCA1P2, LOC100288703, 105 more genes
    nsv6313700copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 226,131,690-231,908,227 , GRCh38.p12 chr1: 225,943,990-231,772,481 ACTA1, PARP1, 167 more genes
    nsv6306948insertion1nstd186human GRCh37 chr1: 228,784,623-228,784,623 , GRCh38.p12 chr1: 228,648,876-228,648,876 , GRCh38.p12 chr1|NW_018654708.1: 226,203-226,203 DUSP5P1, RHOU
    nsv6290198copy number variation1nstd102humanUncertain significance GRCh37 chr1: 227,782,268-229,506,509 , GRCh38.p12 chr1: 227,594,567-229,370,762 BTNL10P, TRIM17, 70 more genes
    nsv6133981copy number variation1nstd213human GRCh37 chr1: 223,800,000-235,190,001 , GRCh38.p12 chr1: 223,612,298-235,054,254 AGT, H3-3A, 273 more genes
    nsv6133762copy number variation1nstd213human GRCh37 chr1: 228,020,000-235,190,001 , GRCh38.p12 chr1: 227,832,299-235,054,254 ACTA1, AGT, 174 more genes
    nsv6058491insertion1nstd212human GRCh38 chr1: 228,648,876-228,648,876 , GRCh37.p13 chr1: 228,784,623-228,784,623 RHOU, DUSP5P1
    nsv5982684copy number variation1nstd212human GRCh38 chr1: 228,609,558-228,647,657 , GRCh37.p13 chr1: 228,745,305-228,783,404 RNA5S2, RNA5S5, 18 more genes
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