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Items: 1 to 20 of 233

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099255copy number variation1nstd231human GRCh38.p12 chr1: 192,358,641-201,911,882 , GRCh37 chr1: 192,327,771-201,881,010 CACNA1S, CSRP1, 120 more genes
    nsv7095955copy number variation1nstd102humanUncertain significance GRCh37 chr1: 200,522,516-206,945,780 , GRCh38.p12 chr1: 200,553,388-206,772,435 ELF3, MAPKAPK2, 189 more genes
    nsv7095569copy number variation2nstd102humanUncertain significance GRCh37 chr1: 200,522,516-208,391,267 , GRCh38.p12 chr1: 200,553,388-208,217,922 TRK-TTT8-1, ADIPOR1, 228 more genes
    nsv7057319inversion1nstd229human GRCh38 chr1: 201,310,503-201,310,638 , GRCh37.p13 chr1: 201,279,631-201,279,766 PKP1
    nsv7052902inversion1nstd229human GRCh38 chr1: 201,317,067-201,317,173 , GRCh37.p13 chr1: 201,286,195-201,286,301 PKP1
    nsv7048044inversion1nstd229human GRCh38 chr1: 200,722,696-202,712,068 , GRCh37.p13 chr1: 200,691,824-202,681,196 ARL8A, KIF21B, 52 more genes
    nsv6677868copy number variation1nstd229human GRCh38 chr1: 201,307,301-201,312,200 , GRCh37.p13 chr1: 201,276,429-201,281,328 PKP1
    nsv6675141copy number variation1nstd229human GRCh38 chr1: 201,283,906-201,293,939 , GRCh37.p13 chr1: 201,253,034-201,263,067 PKP1
    nsv6674350copy number variation1nstd229human GRCh38 chr1: 201,321,210-201,321,348 , GRCh37.p13 chr1: 201,290,338-201,290,476 PKP1
    nsv6674222copy number variation1nstd229human GRCh38 chr1: 201,312,309-201,348,791 , GRCh37.p13 chr1: 201,281,437-201,317,919 PKP1
    nsv6673647copy number variation1nstd229human GRCh38 chr1: 200,873,101-201,555,700 , GRCh37.p13 chr1: 200,842,229-201,524,828 GPR25, PHLDA3, 18 more genes
    nsv6670171copy number variation1nstd229human GRCh38 chr1: 201,293,091-201,293,158 , GRCh37.p13 chr1: 201,262,219-201,262,286 PKP1
    nsv6668424copy number variation1nstd229human GRCh38 chr1: 201,287,575-201,291,028 , GRCh37.p13 chr1: 201,256,703-201,260,156 PKP1
    nsv6665866copy number variation1nstd229human GRCh38 chr1: 201,313,561-201,316,552 , GRCh37.p13 chr1: 201,282,689-201,285,680 PKP1
    nsv6664471copy number variation1nstd229human GRCh38 chr1: 201,279,150-201,282,075 , GRCh37.p13 chr1: 201,248,278-201,251,203 PKP1
    nsv6663045copy number variation1nstd229human GRCh38 chr1: 201,307,266-201,312,234 , GRCh37.p13 chr1: 201,276,394-201,281,362 PKP1
    nsv6660667copy number variation1nstd229human GRCh38 chr1: 201,279,424-201,282,174 , GRCh37.p13 chr1: 201,248,552-201,251,302 PKP1
    nsv6658324copy number variation1nstd229human GRCh38 chr1: 201,294,045-201,313,164 , GRCh37.p13 chr1: 201,263,173-201,282,292 PKP1
    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
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