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Items: 1 to 20 of 202

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147364insertion1nstd232human GRCh37.p13 chr12: 120,591,211-120,591,211 , GRCh38.p12 chr12: 120,153,407-120,153,407 GCN1
    nsv7140825copy number variation1nstd232human GRCh37.p13 chr12: 120,580,525-120,580,625 , GRCh38.p12 chr12: 120,142,721-120,142,821 GCN1
    nsv7138737copy number variation1nstd232human GRCh37.p13 chr12: 120,575,617-120,575,702 , GRCh38.p12 chr12: 120,137,813-120,137,898 GCN1
    nsv7138035copy number variation1nstd232human GRCh37.p13 chr12: 120,616,562-120,616,653 , GRCh38.p12 chr12: 120,178,759-120,178,850 GCN1
    nsv7137259insertion1nstd232human GRCh37.p13 chr12: 120,578,828-120,578,828 , GRCh38.p12 chr12: 120,141,024-120,141,024 GCN1
    nsv6935325copy number variation1nstd229human GRCh38 chr12: 120,107,155-120,129,006 , GRCh37.p13 chr12: 120,544,959-120,566,810 RAB35, GCN1
    nsv6935163copy number variation1nstd229human GRCh38 chr12: 120,067,201-120,694,800 , GRCh37.p13 chr12: 120,505,005-121,132,603 RPL11P5, RNF10, 30 more genes
    nsv6934866copy number variation1nstd229human GRCh38 chr12: 119,918,701-123,974,100 , GRCh37.p13 chr12: 120,356,505-124,458,647 RNU6-1088P, LOC105370042, 130 more genes
    nsv6932742copy number variation1nstd229human GRCh38 chr12: 120,170,874-120,172,556 , GRCh37.p13 chr12: 120,608,678-120,610,360 GCN1
    nsv6919599copy number variation1nstd229human GRCh38 chr12: 119,989,801-120,740,500 , GRCh37.p13 chr12: 120,427,605-121,178,303 RPS20P31, MLEC, 33 more genes
    nsv6919051copy number variation1nstd229human GRCh38 chr12: 120,186,213-120,208,254 , GRCh37.p13 chr12: 120,624,016-120,646,057 RPLP0, GCN1, 1 more genes
    nsv6591673inversion1nstd223human GRCh38 chr12: 120,188,823-120,189,314 , GRCh37.p13 chr12: 120,626,626-120,627,117 GCN1
    nsv6583876inversion1nstd223human GRCh38 chr12: 118,054,469-123,705,974 , GRCh37.p13 chr12: 118,492,274-124,190,521 RPL11P5, RPL17P37, 159 more genes
    nsv6477563copy number variation1nstd223human GRCh38 chr12: 120,167,184-120,208,254 , GRCh37.p13 chr12: 120,604,988-120,646,057 RPLP0, GCN1, 1 more genes
    nsv6290239copy number variation1nstd102humanLikely pathogenic GRCh37 chr12: 117,461,902-133,841,395 , GRCh38.p12 chr12: 117,024,097-133,264,809 ACADS, BCL7A, 356 more genes
    nsv6132411copy number variation1nstd213human GRCh37 chr12: 119,880,000-120,880,001 , GRCh38.p12 chr12: 119,442,195-120,442,198 MSI1, RPLP0, 25 more genes
    nsv6028975copy number variation1nstd212human GRCh38 chr12: 120,152,356-120,152,603 , GRCh37.p13 chr12: 120,590,160-120,590,407 GCN1
    nsv5973346inversion1nstd209human GRCh38 chr12: 118,054,601-123,705,841 , GRCh37.p13 chr12: 118,492,406-124,190,388 , ACADS, 162 more genes
    nsv5584616copy number variation1nstd207human GRCh38 chr12: 120,152,391-120,152,636 , GRCh37.p13 chr12: 120,590,195-120,590,440 GCN1
    nsv5511199copy number variation1nstd206human GRCh38 chr12: 120,159,161-120,159,266 , GRCh37.p13 chr12: 120,596,965-120,597,070 GCN1
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