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Items: 1 to 20 of 144

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5895654copy number variation1nstd209human GRCh38 chr2: 173,429,129-173,432,040 , GRCh37.p13 chr2: 174,293,857-174,296,768 JPT1P1
    nsv5831946copy number variation1nstd209human GRCh38 chr2: 173,429,171-173,432,082 , GRCh37.p13 chr2: 174,293,899-174,296,810 JPT1P1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5449854copy number variation1nstd206human GRCh38 chr2: 173,426,062-173,432,453 , GRCh37.p13 chr2: 174,290,790-174,297,181 JPT1P1
    nsv5381341copy number variation1nstd102humanPathogenic GRCh37 chr2: 171,999,572-182,774,361 , GRCh38.p12 chr2: 171,143,062-181,909,634 ALDH7A1P2, LOC101927055, 174 more genes
    nsv5366653translocation1nstd200human GRCh38 chr2: 173,431,799-173,431,799 , GRCh38 chr2: 173,430,137-173,430,137 , GRCh37.p13 chr2: 174,296,527-174,296,527 , GRCh37.p13 chr2: 174,294,865-174,294,865 JPT1P1
    nsv5351010translocation1nstd200human GRCh38 chr2: 173,432,041-173,432,041 , GRCh38 chr2: 173,429,130-173,429,130 , GRCh37.p13 chr2: 174,293,858-174,293,858 , GRCh37.p13 chr2: 174,296,769-174,296,769 JPT1P1
    nsv5330639translocation1nstd200human GRCh37 chr2: 174,294,865-174,294,865 , GRCh37 chr2: 174,296,527-174,296,527 , GRCh38.p12 chr2: 173,430,137-173,430,137 , GRCh38.p12 chr2: 173,431,799-173,431,799 JPT1P1
    nsv5292778copy number variation1nstd204human GRCh38.p13 chr2: 173,429,106-173,432,063 , GRCh37.p13 chr2: 174,293,834-174,296,791 JPT1P1
    nsv5219896copy number variation1nstd204human GRCh38.p13 chr2: 173,429,101-173,432,000 , GRCh37.p13 chr2: 174,293,829-174,296,728 JPT1P1
    nsv5204867copy number variation1nstd204human GRCh38.p13 chr2: 173,429,071-173,432,132 , GRCh37.p13 chr2: 174,293,799-174,296,860 JPT1P1
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4909676copy number variation1nstd200human GRCh38 chr2: 173,426,062-173,432,453 , GRCh37.p13 chr2: 174,290,790-174,297,181 JPT1P1
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4789938copy number variation1nstd200human GRCh37 chr2: 174,293,858-174,296,769 , GRCh38.p12 chr2: 173,429,130-173,432,041 JPT1P1
    nsv4789937copy number variation1nstd200human GRCh37 chr2: 174,290,790-174,297,181 , GRCh38.p12 chr2: 173,426,062-173,432,453 JPT1P1
    nsv4768307copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890 RBM45, LOC102724194, 258 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4673892copy number variation1nstd102humanUncertain significance GRCh37 chr2: 173,865,202-175,428,639 , GRCh38.p12 chr2: 173,000,474-174,563,911 CBY1P1, GPR155-DT, 30 more genes
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