U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Links from Gene

Items: 1 to 20 of 181

    loading data ...

    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6123103copy number variation1nstd186human GRCh37 chr14: 74,545,329-74,546,010 , GRCh38.p12 chr14: 74,078,626-74,079,307 BBOF1, ALDH6A1
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5974097insertion1nstd209human GRCh38 chr14: 74,059,379-74,059,379 , GRCh37.p13 chr14: 74,526,082-74,526,082 ALDH6A1, BBOF1
    nsv5947100copy number variation1nstd209human GRCh38 chr14: 74,078,630-74,079,348 , GRCh37.p13 chr14: 74,545,333-74,546,051 ALDH6A1, BBOF1
    nsv5730030mobile element insertion1nstd211human GRCh38 chr14: 74,059,695-74,059,695 , GRCh37.p13 chr14: 74,526,398-74,526,398 BBOF1, ALDH6A1
    nsv5504475copy number variation1nstd206human GRCh38 chr14: 74,053,637-74,063,486 , GRCh37.p13 chr14: 74,520,340-74,530,189 ALDH6A1, BBOF1
    nsv5494737copy number variation1nstd206human GRCh38 chr14: 74,078,626-74,079,307 , GRCh37.p13 chr14: 74,545,329-74,546,010 ALDH6A1, BBOF1
    nsv5392718copy number variation1nstd186human GRCh37 chr14: 74,545,399-74,545,996 , GRCh38.p12 chr14: 74,078,696-74,079,293 ALDH6A1, BBOF1
    nsv5374607translocation1nstd200human GRCh38 chr14: 74,052,850-74,052,850 , GRCh38 chr14: 74,070,677-74,070,677 , GRCh37.p13 chr14: 74,537,380-74,537,380 , GRCh37.p13 chr14: 74,519,553-74,519,553 BBOF1, ALDH6A1
    nsv5331428translocation1nstd200human GRCh37 chr14: 74,519,553-74,519,553 , GRCh37 chr14: 74,537,380-74,537,380 , GRCh38.p12 chr14: 74,070,677-74,070,677 , GRCh38.p12 chr14: 74,052,850-74,052,850 ALDH6A1, BBOF1
    nsv5304051copy number variation1nstd204human GRCh37.p13 chr14: 74,530,328-74,534,358 , GRCh38.p13 chr14: 74,063,625-74,067,655 ALDH6A1, BBOF1
    nsv5303955copy number variation1nstd204human GRCh37.p13 chr14: 74,545,352-74,546,028 , GRCh38.p13 chr14: 74,078,649-74,079,325 BBOF1, ALDH6A1
    nsv5278032copy number variation1nstd204human GRCh38.p13 chr14: 73,961,701-74,069,000 , GRCh37.p13 chr14: 74,428,404-74,535,703 RPL41P4, ENTPD5, 3 more genes
    nsv5267325copy number variation1nstd204human GRCh38.p13 chr14: 74,063,461-74,067,680 , GRCh37.p13 chr14: 74,530,164-74,534,383 ALDH6A1, BBOF1
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv5000041copy number variation1nstd200human GRCh38 chr14: 74,061,679-74,062,382 , GRCh37.p13 chr14: 74,528,382-74,529,085 ALDH6A1, BBOF1
    nsv5000040copy number variation1nstd200human GRCh38 chr14: 74,058,125-74,059,446 , GRCh37.p13 chr14: 74,524,828-74,526,149 BBOF1, ALDH6A1
    nsv4831379copy number variation1nstd200human GRCh37 chr14: 74,545,398-74,545,996 , GRCh38.p12 chr14: 74,078,695-74,079,293 BBOF1, ALDH6A1
    nsv4830468copy number variation1nstd200human GRCh37 chr14: 74,524,828-74,526,149 , GRCh38.p12 chr14: 74,058,125-74,059,446 BBOF1, ALDH6A1
    nsv4672174copy number variation1nstd186human GRCh37 chr14: 74,545,333-74,546,052 , GRCh38.p12 chr14: 74,078,630-74,079,349 BBOF1, ALDH6A1
    Format
    Items per page

    Send to:

    Choose Destination

    Supplemental Content

    Find related data

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center