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Items: 1 to 20 of 129

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7094440copy number variation1nstd102humanUncertain significance GRCh37 chr14: 61,444,212-61,447,691 , GRCh38.p12 chr14: 60,977,494-60,980,973 SLC38A6, TRMT5
    nsv7094439copy number variation2nstd102humanUncertain significance GRCh37 chr14: 60,976,117-61,447,691 , GRCh38.p12 chr14: 60,509,399-60,980,973 MAD2L1P1, SLC38A6, 12 more genes
    nsv7094258copy number variation1nstd102humanUncertain significance GRCh37 chr14: 61,441,827-61,447,691 , GRCh38.p12 chr14: 60,975,109-60,980,973 TRMT5, SLC38A6
    nsv7093469insertion1nstd102humanUncertain significance GRCh38 chr14: 60,979,574-60,979,574 , GRCh37 chr14: 61,446,292-61,446,292 TRMT5, SLC38A6
    nsv7078008inversion1nstd229human GRCh38 chr14: 60,214,891-67,756,686 , GRCh37.p13 chr14: 60,681,609-68,223,403 ATP6V1D, LOC101927756, 129 more genes
    nsv7074395inversion1nstd229human GRCh38 chr14: 60,340,053-62,327,269 , GRCh37.p13 chr14: 60,806,771-62,793,987 MAD2L1P1, GNRHR2P1, 33 more genes
    nsv7060471inversion1nstd229human GRCh38 chr14: 54,671,401-63,742,041 , GRCh37.p13 chr14: 55,138,119-64,208,759 KTN1, OTX2-AS1, 153 more genes
    nsv6954243copy number variation1nstd229human GRCh38 chr14: 60,903,538-60,987,414 , GRCh37.p13 chr14: 61,370,256-61,454,132 SRMP2, MNAT1, 3 more genes
    nsv6952443copy number variation1nstd229human GRCh38 chr14: 57,104,906-61,096,631 , GRCh37.p13 chr14: 57,571,624-61,563,349 LRRC9, RTN1, 71 more genes
    nsv6949750copy number variation1nstd229human GRCh38 chr14: 60,941,772-61,053,669 , GRCh37.p13 chr14: 61,408,490-61,520,387 MNAT1, SLC38A6, 3 more genes
    nsv6949011copy number variation1nstd229human GRCh38 chr14: 57,104,849-61,096,728 , GRCh37.p13 chr14: 57,571,567-61,563,446 MAD2L1P1, AP5M1, 71 more genes
    nsv6943085copy number variation1nstd229human GRCh38 chr14: 60,979,140-60,989,778 , GRCh37.p13 chr14: 61,445,858-61,456,496 SLC38A6, TRMT5
    nsv6637682copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 57,804,997-63,590,203 , GRCh38.p12 chr14: 57,338,279-63,123,485 PARP1P2, HIF1A, 91 more genes
    nsv6622563copy number variation1nstd224human GRCh37 chr14: 61,371,810-61,924,398 , GRCh38.p12 chr14: 60,905,092-61,457,680 MNAT1, PRKCH, 6 more genes
    nsv6594267inversion1nstd223human GRCh38 chr14: 54,883,431-63,921,497 , GRCh37.p13 chr14: 55,350,149-64,388,215 RPL36AP1, GNRHR2P1, 152 more genes
    nsv6489006copy number variation1nstd223human GRCh38 chr14: 60,969,101-60,970,000 , GRCh37.p13 chr14: 61,435,819-61,436,718 MNAT1, TRMT5
    nsv6486672copy number variation1nstd223human GRCh38 chr14: 60,732,074-61,069,747 , GRCh37.p13 chr14: 61,198,792-61,536,465 RNU6-398P, SLC38A6, 5 more genes
    nsv6486468copy number variation1nstd223human GRCh38 chr14: 60,936,510-61,082,791 , GRCh37.p13 chr14: 61,403,228-61,549,509 SLC38A6, MNAT1, 3 more genes
    nsv6480571copy number variation1nstd223human GRCh38 chr14: 60,970,801-60,975,600 , GRCh37.p13 chr14: 61,437,519-61,442,318 TRMT5, RNU6-398P
    nsv6315524copy number variation1nstd102humanPathogenic GRCh37 chr14: 37,671,058-106,985,955 , GRCh38.p12 chr14: 37,201,853-106,530,013 PAPOLA-DT, LOC105378180, 1338 more genes
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