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Items: 1 to 20 of 205

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5949264insertion1nstd209human GRCh38 chr1: 241,996,909-241,996,909 , GRCh37.p13 chr1: 242,160,211-242,160,211 MAP1LC3C
    nsv5563714sequence alteration1nstd206human GRCh38 chr1: 239,954,099-244,216,818 , GRCh37.p13 chr1: 240,117,399-244,380,120 , CHML, 66 more genes
    nsv5556791sequence alteration1nstd206human GRCh38 chr1: 241,994,461-241,994,466 , GRCh37.p13 chr1: 242,157,763-242,157,768 MAP1LC3C
    nsv5381296copy number variation1nstd102humanPathogenic GRCh37 chr1: 240,554,955-247,342,593 , GRCh38.p12 chr1: 240,391,655-247,179,291 RPL6P3, RN7SKP12, 108 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5201427copy number variation1nstd204human GRCh37.p13 chr1: 242,062,203-242,386,702 , GRCh38.p13 chr1: 241,898,901-242,223,400 TUBB8P6, PLD5, 7 more genes
    nsv4907122copy number variation1nstd200human GRCh38 chr1: 241,999,975-242,004,432 , GRCh37.p13 chr1: 242,163,277-242,167,734 MAP1LC3C
    nsv4904543copy number variation1nstd200human GRCh38 chr1: 241,867,368-242,127,310 , GRCh37.p13 chr1: 242,030,670-242,290,612 MAP1LC3C, CFL1P4, 6 more genes
    nsv4785588copy number variation1nstd200human GRCh37 chr1: 242,163,277-242,167,734 , GRCh38.p12 chr1: 241,999,975-242,004,432 MAP1LC3C
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4681470copy number variation1nstd102humanPathogenic GRCh37 chr1: 241,661,108-242,431,558 , GRCh38.p12 chr1: 241,497,808-242,268,256 CHML, EXO1, 16 more genes
    nsv4680550copy number variation1nstd189human GRCh37.p13 chr1: 242,035,411-242,310,194 , GRCh38.p12 chr1: 241,872,109-242,146,892 EXO1, TUBB8P6, 7 more genes
    nsv4680107copy number variation1nstd189human GRCh37.p13 chr1: 242,035,126-242,238,741 , GRCh38.p12 chr1: 241,871,824-242,075,439 EXO1, TUBB8P6, 5 more genes
    nsv4679288copy number variation1nstd189human GRCh37.p13 chr1: 242,035,126-242,261,827 , GRCh38.p12 chr1: 241,871,824-242,098,525 EXO1, TUBB8P6, 6 more genes
    nsv4679197copy number variation1nstd189human GRCh37.p13 chr1: 242,035,126-242,298,974 , GRCh38.p12 chr1: 241,871,824-242,135,672 EXO1, TUBB8P6, 6 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4580997copy number variation1nstd183human GRCh37 chr1: 242,127,992-242,169,663 , GRCh38.p12 chr1: 241,964,690-242,006,361 MAP1LC3C, CFL1P4
    nsv4580814copy number variation1nstd183human GRCh37 chr1: 240,048,298-243,410,504 , GRCh38.p12 chr1: 239,884,998-243,247,202 , LOC105373228, 55 more genes
    nsv4455005copy number variation1nstd102humanPathogenic GRCh37 chr1: 238,669,293-249,224,684 , GRCh38.p12 chr1: 238,505,993-248,930,485 ZNF731P, RNU6-947P, 212 more genes
    nsv4453906copy number variation1nstd102humanPathogenic GRCh37 chr1: 235,582,580-249,224,684 , GRCh38.p12 chr1: 235,419,265-248,930,485 YWHAQP9, LOC107985747, 268 more genes
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