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Items: 1 to 20 of 546

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148175copy number variation1nstd102humanPathogenic GRCh38 chr1: 230,178,121-243,646,135 , GRCh37.p13 chr1: 230,313,867-243,809,437 AGT, MAP10, 221 more genes
    nsv7148158copy number variation1nstd102humanPathogenic GRCh38 chr1: 235,215,476-247,005,888 , GRCh37.p13 chr1: 235,378,791-247,169,190 RNU6-747P, LINC01139, 172 more genes
    nsv7144196insertion1nstd232human GRCh37.p13 chr1: 235,750,932-235,750,932 , GRCh38.p12 chr1: 235,587,632-235,587,632 GNG4
    nsv7138576insertion1nstd232human GRCh37.p13 chr1: 235,798,872-235,798,872 , GRCh38.p12 chr1: 235,635,572-235,635,572 GNG4
    nsv7137173copy number variation1nstd102humanPathogenic GRCh38 chr1: 233,502,994-236,105,019 , GRCh37.p13 chr1: 233,638,740-236,268,319 ARID4B, MTND3P8, 58 more genes
    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
    nsv7057850inversion1nstd229human GRCh38 chr1: 235,440,829-235,578,083 , GRCh37.p13 chr1: 235,604,144-235,741,383 MTND6P14, MTND5P19, 8 more genes
    nsv7048010inversion1nstd229human GRCh38 chr1: 233,396,223-235,667,657 , GRCh37.p13 chr1: 233,531,969-235,830,957 RN7SL668P, LINC02961, 52 more genes
    nsv7046153inversion1nstd229human GRCh38 chr1: 235,542,586-235,549,050 , GRCh37.p13 chr1: 235,705,886-235,712,350 MTND3P8, MTCO3P46, 1 more genes
    nsv7044547inversion1nstd229human GRCh38 chr1: 234,053,817-240,091,334 , GRCh37.p13 chr1: 234,189,563-240,254,634 RNU6-725P, RNU6-968P, 101 more genes
    nsv7040505inversion1nstd229human GRCh38 chr1: 235,226,873-236,268,697 , GRCh37.p13 chr1: 235,390,188-236,431,997 RPS21P1, NID1, 26 more genes
    nsv6677098copy number variation1nstd229human GRCh38 chr1: 235,591,483-235,602,577 , GRCh37.p13 chr1: 235,754,783-235,765,877 GNG4
    nsv6674321copy number variation1nstd229human GRCh38 chr1: 235,193,806-235,610,253 , GRCh37.p13 chr1: 235,357,121-235,773,553 MTND5P19, RPS21P1, 13 more genes
    nsv6674303copy number variation1nstd229human GRCh38 chr1: 235,622,001-235,627,500 , GRCh37.p13 chr1: 235,785,301-235,790,800 GNG4
    nsv6674140copy number variation1nstd229human GRCh38 chr1: 235,565,684-235,579,639 , GRCh37.p13 chr1: 235,728,984-235,742,939 GNG4
    nsv6673803copy number variation1nstd229human GRCh38 chr1: 235,621,601-235,627,600 , GRCh37.p13 chr1: 235,784,901-235,790,900 GNG4
    nsv6673459copy number variation1nstd229human GRCh38 chr1: 235,405,516-235,553,266 , GRCh37.p13 chr1: 235,568,831-235,716,566 RPS21P1, MTND5P19, 9 more genes
    nsv6673340copy number variation1nstd229human GRCh38 chr1: 235,561,244-235,612,801 , GRCh37.p13 chr1: 235,724,544-235,776,101 GNG4
    nsv6672755copy number variation1nstd229human GRCh38 chr1: 235,595,346-235,597,527 , GRCh37.p13 chr1: 235,758,646-235,760,827 GNG4
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