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Items: 11

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    Number of Variants: 11

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4685966copy number variation1nstd102humanLikely pathogenic GRCh37 chrMT: 5,794-14,876 , GRCh38 chrMT: 5,794-14,876 ATP6, ATP8, 26 more genes
    nsv4685928copy number variation1nstd102humanPathogenic GRCh38 chrMT: 6,003-11,220 , GRCh37 chrMT: 6,003-11,220 COX2, ND4L, 21 more genes
    nsv4685879copy number variation1nstd102humanLikely pathogenic GRCh37 chrMT: 5,782-13,922 , GRCh38 chrMT: 5,782-13,922 ATP6, ATP8, 25 more genes
    esv2445696copy number variation1estd197human NCBI36 chrMT: 4,587-4,587 , GRCh37.p13 chrMT: 4,586-4,586 , GRCh38.p12 chrMT: 4,586-4,586 COX1, ND1, 9 more genes
    esv2517402insertion1estd197human GRCh37.p13 chrMT: 5,155-5,155 , GRCh38.p12 chrMT: 5,155-5,155 , NCBI36 chrMT: 5,156-5,156 TRNC, COX1, 5 more genes
    esv2576391copy number variation1estd197human NCBI36 chrMT: 4,549-4,549 , GRCh37.p13 chrMT: 4,548-4,548 , GRCh38.p12 chrMT: 4,548-4,548 TRNY, COX1, 9 more genes
    esv2599518copy number variation1estd197human GRCh37.p13 chrMT: 5,008-5,008 , GRCh38.p12 chrMT: 5,008-5,008 , NCBI36 chrMT: 5,009-5,009 TRNC, COX1, 5 more genes
    esv2516227copy number variation1estd197human NCBI36 chrMT: 4,177-4,177 , GRCh37.p13 chrMT: 4,176-4,176 , GRCh38.p12 chrMT: 4,176-4,176 TRNY, COX1, 9 more genes
    esv2503758insertion1estd197human NCBI36 chrMT: 4,327-4,327 , GRCh37.p13 chrMT: 4,326-4,326 , GRCh38.p12 chrMT: 4,326-4,326 COX1, TRNN, 9 more genes
    nsv436768insertion1nstd16human GRCh37.p13 chrMT: 6,269-6,745 , GRCh38.p12 chrMT: 6,269-6,745 , NCBI36 chrMT: 6,270-6,746 ATP6, ATP8, 7 more genes
    nsv435992inversion1nstd16human GRCh37.p13 chrMT: 2,765-9,313 , GRCh38.p12 chrMT: 2,765-9,313 , NCBI36 chrMT: 2,767-9,314 ATP6, ATP8, 23 more genes
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