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Items: 1 to 20 of 484

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7147804insertion1nstd232human GRCh37.p13 chr2: 223,783,920-223,783,920 , GRCh38.p12 chr2: 222,919,202-222,919,202 ACSL3, ACSL3-AS1
    nsv7138990insertion1nstd232human GRCh37.p13 chr2: 223,798,000-223,798,000 , GRCh38.p12 chr2: 222,933,282-222,933,282 ACSL3
    nsv7056278inversion1nstd229human GRCh38 chr2: 220,988,202-223,580,062 , GRCh37.p13 chr2: 221,852,922-224,444,780 ACSL3, LOC105373907, 34 more genes
    nsv7051604inversion1nstd229human GRCh38 chr2: 222,872,132-222,876,811 , GRCh37.p13 chr2: 223,736,850-223,741,529 ACSL3
    nsv7047506inversion1nstd229human GRCh38 chr2: 222,618,340-223,958,759 , GRCh37.p13 chr2: 223,483,059-224,823,476 LOC105373903, LOC105373906, 22 more genes
    nsv7047209inversion1nstd229human GRCh38 chr2: 222,803,564-227,992,948 , GRCh37.p13 chr2: 223,668,283-228,857,664 MFF, LOC100289117, 55 more genes
    nsv7043640inversion1nstd229human GRCh38 chr2: 222,841,128-228,011,478 , GRCh37.p13 chr2: 223,705,846-228,876,194 MFF-DT, LOC105373905, 55 more genes
    nsv6696678copy number variation1nstd229human GRCh38 chr2: 222,895,473-222,897,953 , GRCh37.p13 chr2: 223,760,191-223,762,671 ACSL3
    nsv6678923copy number variation1nstd229human GRCh38 chr2: 222,848,690-222,859,946 , GRCh37.p13 chr2: 223,713,408-223,724,664 ACSL3
    nsv6678352copy number variation1nstd229human GRCh38 chr2: 222,932,649-222,932,967 , GRCh37.p13 chr2: 223,797,367-223,797,685 ACSL3
    nsv6678167copy number variation1nstd229human GRCh38 chr2: 222,915,319-222,915,500 , GRCh37.p13 chr2: 223,780,037-223,780,218 ACSL3, ACSL3-AS1
    nsv6628057copy number variation1nstd224human GRCh37 chr2: 223,488,778-223,743,187 , GRCh38.p12 chr2: 222,624,059-222,878,469 ACSL3, FARSB, 6 more genes
    nsv6546900inversion1nstd223human GRCh38 chr2: 220,988,201-223,580,063 , GRCh37.p13 chr2: 221,852,921-224,444,781 ATG12P2, LOC105373902, 34 more genes
    nsv6543312inversion1nstd223human GRCh38 chr2: 222,929,725-222,930,018 , GRCh37.p13 chr2: 223,794,443-223,794,736 ACSL3
    nsv6541897inversion1nstd223human GRCh38 chr2: 222,820,560-223,434,020 , GRCh37.p13 chr2: 223,685,279-224,298,738 KCNE4, RN7SL807P, 8 more genes
    nsv6538039inversion1nstd223human GRCh38 chr2: 222,880,667-222,882,762 , GRCh37.p13 chr2: 223,745,385-223,747,480 ACSL3
    nsv6349698copy number variation1nstd223human GRCh38 chr2: 222,937,201-222,938,300 , GRCh37.p13 chr2: 223,801,919-223,803,018 ACSL3
    nsv6347339copy number variation1nstd223human GRCh38 chr2: 222,932,640-222,932,957 , GRCh37.p13 chr2: 223,797,358-223,797,675 ACSL3
    nsv6340724copy number variation1nstd223human GRCh38 chr2: 222,860,001-222,861,800 , GRCh37.p13 chr2: 223,724,719-223,726,518 ACSL3
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