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Items: 1 to 20 of 160

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5904371copy number variation1nstd209human GRCh38 chr5: 66,147,832-66,148,367 , GRCh37.p13 chr5: 65,443,660-65,444,195 SREK1
    nsv5888446copy number variation1nstd209human GRCh38 chr5: 66,174,155-66,174,266 , GRCh37.p13 chr5: 65,469,983-65,470,094 SREK1
    nsv5466481copy number variation1nstd206human GRCh38 chr5: 66,147,599-66,148,344 , GRCh37.p13 chr5: 65,443,427-65,444,172 SREK1
    nsv5456457copy number variation1nstd206human GRCh38 chr5: 66,174,155-66,174,267 , GRCh37.p13 chr5: 65,469,983-65,470,095 SREK1
    nsv5362306translocation1nstd200human GRCh38 chr19: 42,428,303-42,428,303 , GRCh38 chr5: 66,179,495-66,179,495 , GRCh37.p13 chr19: 42,932,455-42,932,455 , GRCh37.p13 chr5: 65,475,323-65,475,323 SREK1, CXCL17, 1 more genes
    nsv5362305translocation1nstd200human GRCh38 chr19: 42,428,305-42,428,305 , GRCh38 chr5: 66,178,881-66,178,881 , GRCh37.p13 chr19: 42,932,457-42,932,457 , GRCh37.p13 chr5: 65,474,709-65,474,709 SREK1, CXCL17, 1 more genes
    nsv5304319copy number variation1nstd204human GRCh38.p13 chr5: 66,147,852-66,148,340 , GRCh37.p13 chr5: 65,443,680-65,444,168 SREK1
    nsv5081413mobile element insertion1nstd203human GRCh38 chr5: 66,167,705-66,167,717 , GRCh37.p13 chr5: 65,463,533-65,463,545 SREK1
    nsv4948849copy number variation1nstd200human GRCh38 chr5: 66,152,539-66,983,998 , GRCh37.p13 chr5: 65,448,367-66,279,826 SREK1, MAST4, 6 more genes
    nsv4937626copy number variation1nstd200human GRCh38 chr5: 66,147,855-66,148,338 , GRCh37.p13 chr5: 65,443,683-65,444,166 SREK1
    nsv4805569copy number variation1nstd200human GRCh37 chr5: 65,469,983-65,470,095 , GRCh38.p12 chr5: 66,174,155-66,174,267 SREK1
    nsv4663092copy number variation1nstd186human GRCh37 chr5: 65,443,635-65,444,172 , GRCh38.p12 chr5: 66,147,807-66,148,344 SREK1
    nsv4637365copy number variation2nstd186human GRCh37 chr5: 65,469,983-65,470,095 , GRCh38.p12 chr5: 66,174,155-66,174,267 SREK1
    nsv4598215copy number variation1nstd183human GRCh37 chr5: 65,476,143-65,479,097 , GRCh38.p12 chr5: 66,180,315-66,183,269 SREK1
    nsv4591387copy number variation1nstd183human GRCh37 chr5: 65,443,635-65,444,172 , GRCh38.p12 chr5: 66,147,807-66,148,344 SREK1
    nsv4578696copy number variation1nstd102humanLikely pathogenic GRCh38 chr5: 58,780,641-73,523,380 , GRCh37.p13 chr5: 58,076,468-72,819,205 TRIM23, BTF3, 215 more genes
    nsv4436202copy number variation1nstd102humanUncertain significance GRCh37 chr5: 14,685,137-149,511,942 , GRCh38.p12 chr5: 14,685,028-150,132,379 RNU1-150P, RNU6-727P, 1757 more genes
    nsv4401968copy number variation1nstd174human GRCh37 chr5: 65,443,635-65,444,197 , GRCh38.p12 chr5: 66,147,807-66,148,369 SREK1
    nsv4369047copy number variation1nstd173human GRCh37 chr5: 65,416,349-65,438,199 , GRCh38.p12 chr5: 66,120,521-66,142,371 SREK1
    nsv4124835copy number variation1nstd166human GRCh37.p13 chr5: 65,448,367-66,279,770 , GRCh38.p12 chr5: 66,152,539-66,983,942 SREK1, PPIAP78, 6 more genes
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