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Items: 1 to 20 of 44

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5674222copy number variation1nstd102humanPathogenic GRCh38 chrMT: 7,126-13,988 , GRCh37 chrMT: 7,126-13,988 TRNH, ND6, 20 more genes
    nsv5674221copy number variation1nstd102humanPathogenic GRCh38 chrMT: 6,468-15,586 , GRCh37 chrMT: 6,468-15,586 ND5, TRNG, 20 more genes
    nsv5674171copy number variation1nstd102humanPathogenic GRCh37 chrMT: 10,105-15,066 , GRCh38 chrMT: 10,105-15,066 COX3, ND3, 13 more genes
    nsv5674154copy number variation1nstd102humanPathogenic GRCh37 chrMT: 8,585-12,965 , GRCh38 chrMT: 8,585-12,965 ATP6, TRNL2, 15 more genes
    nsv5674153copy number variation2nstd102humannot provided, Pathogenic GRCh37 chrMT: 8,470-13,446 , GRCh38 chrMT: 8,470-13,446 ND4, ND6, 15 more genes
    nsv4685968copy number variation1nstd102humanPathogenic GRCh37 chrMT: 8,839-14,895 , GRCh38 chrMT: 8,839-14,895 TRNG, TRNK, 16 more genes
    nsv4685966copy number variation1nstd102humanLikely pathogenic GRCh37 chrMT: 5,794-14,876 , GRCh38 chrMT: 5,794-14,876 ATP6, ATP8, 26 more genes
    nsv4685959copy number variation1nstd102humanPathogenic GRCh38 chrMT: 8,290-13,040 , GRCh37 chrMT: 8,290-13,040 CYTB, ND4L, 15 more genes
    nsv4685954copy number variation1nstd102humanPathogenic GRCh38 chrMT: 8,480-13,440 , GRCh37 chrMT: 8,480-13,440 COX2, TRNE, 15 more genes
    nsv4685933copy number variation1nstd102humanPathogenic GRCh37 chrMT: 8,815-13,722 , GRCh38 chrMT: 8,815-13,722 CYTB, ND6, 14 more genes
    nsv4685910copy number variation1nstd102humanPathogenic GRCh37 chrMT: 8,350-13,450 , GRCh38 chrMT: 8,350-13,450 TRNK, TRNG, 15 more genes
    nsv4685902copy number variation1nstd102humanPathogenic GRCh38 chrMT: 12,114-14,420 , GRCh37 chrMT: 12,114-14,420 CYTB, ND6, 8 more genes
    nsv4685897copy number variation1nstd102humanPathogenic GRCh38 chrMT: 11,263-15,374 , GRCh37 chrMT: 11,263-15,374 TRNE, TRNT, 9 more genes
    nsv4685879copy number variation1nstd102humanLikely pathogenic GRCh37 chrMT: 5,782-13,922 , GRCh38 chrMT: 5,782-13,922 ATP6, ATP8, 25 more genes
    esv2465059insertion1estd197human NCBI36 chrMT: 13,757-13,757 , GRCh37.p13 chrMT: 13,756-13,756 , GRCh38.p12 chrMT: 13,756-13,756 CYTB, ND5, 2 more genes
    esv2504900copy number variation1estd197human NCBI36 chrMT: 13,752-13,752 , GRCh37.p13 chrMT: 13,751-13,751 , GRCh38.p12 chrMT: 13,751-13,751 CYTB, ND5, 2 more genes
    esv2514228copy number variation1estd197human NCBI36 chrMT: 15,986-15,986 , GRCh37.p13 chrMT: 15,985-15,985 , GRCh38.p12 chrMT: 15,985-15,985 CYTB, TRNP, 1 more genes
    esv2510669insertion1estd197human GRCh37.p13 chrMT: 14,417-14,417 , GRCh38.p12 chrMT: 14,417-14,417 , NCBI36 chrMT: 14,418-14,418 CYTB, ND5, 4 more genes
    esv2437438insertion1estd197human NCBI36 chrMT: 15,206-16,433 , GRCh37.p13 chrMT: 15,205-16,431 , GRCh38.p12 chrMT: 15,205-16,431 CYTB, TRNE, 2 more genes
    esv2478247insertion1estd197human NCBI36 chrMT: 13,470-13,470 , GRCh37.p13 chrMT: 13,469-13,469 , GRCh38.p12 chrMT: 13,469-13,469 CYTB, ND5, 2 more genes
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