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Items: 1 to 20 of 605

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6131259insertion1nstd186human GRCh37 chr19: 39,037,384-39,037,384 , GRCh38.p12 chr19: 38,546,744-38,546,744 RYR1
    nsv6131149insertion1nstd186human GRCh37 chr19: 39,044,965-39,044,965 , GRCh38.p12 chr19: 38,554,325-38,554,325 RYR1
    nsv5943739copy number variation1nstd209human GRCh38 chr19: 38,507,465-38,507,514 , GRCh37.p13 chr19: 38,998,105-38,998,154 RYR1
    nsv5941456copy number variation1nstd209human GRCh38 chr19: 38,558,580-38,558,891 , GRCh37.p13 chr19: 39,049,220-39,049,531 RYR1
    nsv5938839copy number variation1nstd209human GRCh38 chr19: 38,447,303-38,447,603 , GRCh37.p13 chr19: 38,937,943-38,938,243 RYR1
    nsv5937672copy number variation1nstd209human GRCh38 chr19: 38,548,476-38,693,241 , GRCh37.p13 chr19: 39,039,116-39,183,881 ACTN4, RYR1, 3 more genes
    nsv5936865copy number variation1nstd209human GRCh38 chr19: 38,497,199-38,497,261 , GRCh37.p13 chr19: 38,987,839-38,987,901 RYR1
    nsv5934375copy number variation1nstd209human GRCh38 chr19: 38,435,948-38,439,248 , GRCh37.p13 chr19: 38,926,588-38,929,888 RYR1
    nsv5933092copy number variation1nstd209human GRCh38 chr19: 38,521,579-38,521,825 , GRCh37.p13 chr19: 39,012,219-39,012,465 RYR1
    nsv5878753copy number variation1nstd209human GRCh38 chr19: 38,435,750-38,439,190 , GRCh37.p13 chr19: 38,926,390-38,929,830 RYR1
    nsv5722848mobile element insertion1nstd211human GRCh38 chr19: 38,555,744-38,555,744 , GRCh37.p13 chr19: 39,046,384-39,046,384 RYR1
    nsv5674323delins1nstd102humanLikely pathogenic GRCh38 chr19: 38,528,646-38,528,775 , GRCh37 chr19: 39,019,286-39,019,415 RYR1
    nsv5673235copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 39,066,549-39,078,060 , GRCh38.p12 chr19: 38,575,909-38,587,420 RYR1, MAP4K1
    nsv5672908copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 39,038,863-39,039,070 , GRCh38.p12 chr19: 38,548,223-38,548,430 RYR1
    nsv5664190insertion1nstd207human GRCh38 chr19: 38,540,486-38,540,486 , GRCh37.p13 chr19: 39,031,126-39,031,126 RYR1
    nsv5662731insertion1nstd207human GRCh38 chr19: 38,546,744-38,546,744 , GRCh37.p13 chr19: 39,037,384-39,037,384 RYR1
    nsv5659360insertion1nstd207human GRCh38 chr19: 38,541,454-38,541,454 , GRCh37.p13 chr19: 39,032,094-39,032,094 RYR1
    nsv5657584insertion1nstd207human GRCh38 chr19: 38,554,325-38,554,325 , GRCh37.p13 chr19: 39,044,965-39,044,965 RYR1
    nsv5653452insertion1nstd207human GRCh38 chr19: 38,502,792-38,502,792 , GRCh37.p13 chr19: 38,993,432-38,993,432 RYR1
    nsv5652322insertion1nstd207human GRCh38 chr19: 38,584,585-38,584,585 , GRCh37.p13 chr19: 39,075,225-39,075,225 RYR1
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