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Items: 1 to 20 of 257

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098827copy number variation1nstd102humanPathogenic GRCh37 chr1: 4,481,271-20,530,242 , GRCh38.p12 chr1: 4,421,211-20,203,749 LOC107985467, LINC01777, 386 more genes
    nsv7057525inversion1nstd229human GRCh38 chr1: 7,829,944-15,116,659 , GRCh37.p13 chr1: 7,890,004-15,443,155 PEX14, RNU6-304P, 187 more genes
    nsv7055290inversion1nstd229human GRCh38 chr1: 12,786,723-13,397,565 , GRCh37.p13 chr1: 12,948,044-13,689,279 PRAMEF19, PRAMEF34P, 33 more genes
    nsv7054909inversion1nstd229human GRCh38 chr1: 12,941,907-13,234,434 , GRCh37.p13 chr1: 13,142,562-13,468,432 PRAMEF27, PRAMEF6, 12 more genes
    nsv7052549inversion1nstd229human GRCh38 chr1: 8,322,830-13,737,741 , GRCh37.p13 chr1: 8,382,890-14,064,236 MIR4632, PLOD1, 166 more genes
    nsv7051190inversion1nstd229human GRCh38 chr1: 13,118,869-13,385,947 , GRCh37.p13 chr1: 13,186,341-13,712,407 RNU6-771P, PRAMEF18, 13 more genes
    nsv7049927inversion1nstd229human GRCh38 chr1: 12,447,483-21,286,051 , GRCh37.p13 chr1: 12,507,539-21,612,544 SLC25A34, RNA5SP41, 238 more genes
    nsv7048552inversion1nstd229human GRCh38 chr1: 13,109,001-13,299,216 , GRCh37.p13 chr1: 13,176,473-13,468,432 , GRCh37.p13 chr1: 12,948,044-13,050,365 , GRCh37.p13 chr1: 12,948,050-13,052,998 PRAMEF5, HNRNPCL4, 10 more genes
    nsv7048478inversion1nstd229human GRCh38 chr1: 12,833,357-13,345,558 , GRCh37.p13 chr1: 12,948,044-13,689,279 PRAMEF35P, HNRNPCL3, 28 more genes
    nsv7048291inversion1nstd229human GRCh38 chr1: 12,842,405-13,237,410 , GRCh37.p13 chr1: 12,902,258-13,468,432 PRAMEF18, HNRNPCL4, 19 more genes
    nsv7048193inversion1nstd229human GRCh38 chr1: 9,469,567-16,279,388 , GRCh37.p13 chr1: 9,529,626-16,605,883 PRAMEF36P, HNRNPCL3, 193 more genes
    nsv7038095inversion1nstd229human GRCh38 chr1: 13,121,442-13,235,258 , GRCh37.p13 chr1: 12,948,050-13,052,998 , GRCh37.p13 chr1: 12,948,044-13,050,365 , GRCh37.p13 chr1: 13,188,915-13,468,432 HNRNPCL4, PRAMEF26, 4 more genes
    nsv6657761copy number variation1nstd229human GRCh38 chr1: 9,535,063-15,753,073 , GRCh37.p13 chr1: 9,595,122-16,079,568 SLC25A34-AS1, TMEM274P, 173 more genes
    nsv6636785copy number variation1nstd102humanPathogenic GRCh37 chr1: 6,758,933-19,287,770 , GRCh38.p12 chr1: 6,698,873-18,961,276 GPR157, MST1L, 313 more genes
    nsv6625623copy number variation4nstd224human GRCh37 chr1: 13,171,847-13,374,928 , GRCh38.p12 chr1|NT_187517.1: 49,918-212,775 , GRCh38.p12 chr1|NW_012132914.1: 258,719-423,647 PRAMEF26, PRAMEF31P, 8 more genes
    nsv6625349copy number variation3nstd224human GRCh37 chr1: 12,832,317-13,634,781 , GRCh38.p12 chr1: 12,772,175-13,308,389 PRAMEF13, PRAMEF6, 30 more genes
    nsv6315241copy number variation1nstd102humanLikely pathogenic GRCh38 chr1: 10,115,497-16,283,149 , GRCh37.p13 chr1: 10,175,555-16,609,644 CASP9, CD24P1, 173 more genes
    nsv6290672copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-17,525,065 , GRCh38.p12 chr1: 914,086-17,198,570 RPL9P11, FAM131C2P, 466 more genes
    nsv6138917copy number variation1nstd206human GRCh38 chr1: 13,062,384-13,248,384 , GRCh37.p13 chr1: 12,948,044-13,214,325 PRAMEF18, HNRNPCL4, 10 more genes
    nsv6138074copy number variation1nstd206human GRCh38 chr1: 13,165,842-13,179,450 , GRCh37.p13 chr1: 13,358,216-13,369,046 HNRNPCL4, PRAMEF9
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