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Items: 1 to 20 of 263

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6129312insertion1nstd186human GRCh37 chr13: 52,576,743-52,576,745 , GRCh38.p12 chr13: 52,002,607-52,002,609 ATP7B
    nsv6112758copy number variation1nstd102humanPathogenic GRCh37 chr13: 52,548,050-52,549,324 , GRCh38.p12 chr13: 51,973,914-51,975,188 ATP7B
    nsv5971869insertion1nstd209human GRCh38 chr13: 52,002,603-52,002,603 , GRCh37.p13 chr13: 52,576,739-52,576,739 ATP7B
    nsv5931614copy number variation1nstd209human GRCh38 chr13: 51,945,244-51,945,390 , GRCh37.p13 chr13: 52,519,380-52,519,526 ATP7B
    nsv5852985copy number variation1nstd209human GRCh38 chr13: 51,965,483-51,968,093 , GRCh37.p13 chr13: 52,539,619-52,542,229 ATP7B, FABP5P2
    nsv5709765mobile element insertion1nstd211human GRCh38 chr13: 51,980,333-51,980,333 , GRCh37.p13 chr13: 52,554,469-52,554,469 ATP7B
    nsv5672653copy number variation2nstd102humanPathogenic GRCh37 chr13: 52,585,403-52,602,726 , GRCh38.p12 chr13: 52,011,267-52,028,590 ATP7B, UTP14C, 1 more genes
    nsv5649941insertion1nstd207human GRCh38 chr13: 52,002,603-52,002,603 , GRCh37.p13 chr13: 52,576,739-52,576,739 ATP7B
    nsv5564510copy number variation1nstd102humanPathogenic GRCh37 chr13: 19,053,605-115,108,528 , GRCh38.p12 chr13: 18,479,465-114,343,053 RN7SL272P, DIAPH3, 1333 more genes
    nsv5552217insertion1nstd206human GRCh38 chr13: 52,002,607-52,002,609 , GRCh37.p13 chr13: 52,576,743-52,576,745 ATP7B
    nsv5420376mobile element insertion1nstd206human GRCh38 chr13: 51,980,333-51,980,384 , GRCh37.p13 chr13: 52,554,469-52,554,520 ATP7B
    nsv5356898translocation1nstd200human GRCh38 chr13: 51,949,387-51,949,387 , GRCh38 chr13: 51,949,263-51,949,263 , GRCh37.p13 chr13: 52,523,523-52,523,523 , GRCh37.p13 chr13: 52,523,399-52,523,399 ATP7B
    nsv5156374mobile element insertion1nstd203human GRCh38 chr13: 51,989,093-51,989,100 , GRCh37.p13 chr13: 52,563,229-52,563,236 ATP7B
    nsv5153726mobile element insertion1nstd203human GRCh38 chr13: 51,980,316-51,980,333 , GRCh37.p13 chr13: 52,554,452-52,554,469 ATP7B
    nsv5004600copy number variation1nstd200human GRCh38 chr13: 51,962,800-51,963,571 , GRCh37.p13 chr13: 52,536,936-52,537,707 ATP7B
    nsv4997463copy number variation1nstd200human GRCh38 chr13: 51,972,192-52,006,572 , GRCh37.p13 chr13: 52,546,328-52,580,708 ATP7B
    nsv4997462copy number variation1nstd200human GRCh38 chr13: 51,937,295-51,940,800 , GRCh37.p13 chr13: 52,511,431-52,514,936 ATP7B
    nsv4997204copy number variation1nstd200human GRCh38 chr13: 43,050,454-56,920,222 , GRCh37.p13 chr13: 43,624,590-57,494,356 , RNY3P2, 222 more genes
    nsv4838996copy number variation1nstd200human GRCh37 chr13: 52,546,328-52,580,708 , GRCh38.p12 chr13: 51,972,192-52,006,572 ATP7B
    nsv4769378copy number variation1nstd102humanUncertain significance GRCh37 chr13: 52,170,957-57,713,087 , GRCh38.p12 chr13: 51,596,821-57,138,953 CTAGE3P, TMEM272, 46 more genes
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