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Items: 1 to 20 of 225

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7141495insertion1nstd232human GRCh37.p13 chr1: 229,433,382-229,433,382 , GRCh38.p12 chr1: 229,297,635-229,297,635 RAB4A
    nsv7139926insertion1nstd232human GRCh37.p13 chr1: 229,433,383-229,433,383 , GRCh38.p12 chr1: 229,297,636-229,297,636 RAB4A
    nsv7099266copy number variation1nstd231human GRCh38.p12 chr1: 226,993,371-235,936,592 , GRCh37 chr1: 227,181,072-236,099,892 ACTA1, AGT, 223 more genes
    nsv7093371copy number variation1nstd102humannot provided GRCh37 chr1: 224,230,307-243,181,599 , GRCh38.p12 chr1: 224,042,605-243,018,297 RPL36P6, MTND4LP21, 377 more genes
    nsv7042899inversion1nstd229human GRCh38 chr1: 228,807,456-232,597,605 , GRCh37.p13 chr1: 228,943,203-232,733,351 LOC102723935, LOC107985357, 73 more genes
    nsv7038707inversion1nstd229human GRCh38 chr1: 229,290,904-229,302,084 , GRCh37.p13 chr1: 229,426,651-229,437,831 RAB4A
    nsv6674497copy number variation1nstd229human GRCh38 chr1: 229,275,842-229,278,032 , GRCh37.p13 chr1: 229,411,589-229,413,779 RAB4A
    nsv6674348copy number variation1nstd229human GRCh38 chr1: 229,289,635-229,293,665 , GRCh37.p13 chr1: 229,425,382-229,429,412 RAB4A
    nsv6670489copy number variation1nstd229human GRCh38 chr1: 227,575,489-231,747,964 , GRCh37.p13 chr1: 227,763,190-231,883,710 FAM89A, RNA5S14, 127 more genes
    nsv6665949copy number variation1nstd229human GRCh38 chr1: 228,830,419-229,937,200 , GRCh37.p13 chr1: 228,966,166-230,072,947 RAB4A-AS1, HMGN2P19, 24 more genes
    nsv6661530copy number variation1nstd229human GRCh38 chr1: 229,306,201-229,321,300 , GRCh37.p13 chr1: 229,441,948-229,457,047 CCSAP, RAB4A
    nsv6658204copy number variation1nstd229human GRCh38 chr1: 229,275,824-229,278,064 , GRCh37.p13 chr1: 229,411,571-229,413,811 RAB4A
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
    nsv6636265copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 227,992,928-236,659,905 , GRCh38.p12 chr1: 227,805,227-236,496,605 ACTA1, AGT, 211 more genes
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6549900inversion1nstd223human GRCh38 chr1: 229,174,803-232,234,539 , GRCh37.p13 chr1: 229,310,550-232,370,285 EXOC8, KIAA1191P3, 67 more genes
    nsv6331643copy number variation1nstd223human GRCh38 chr1: 229,290,197-229,292,067 , GRCh37.p13 chr1: 229,425,944-229,427,814 RAB4A
    nsv6316552copy number variation1nstd223human GRCh38 chr1: 229,277,001-229,278,100 , GRCh37.p13 chr1: 229,412,748-229,413,847 RAB4A
    nsv6313841copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,214,912-231,483,538 , GRCh38.p12 chr1: 228,027,211-231,347,792 ISCA1P2, LOC100288703, 105 more genes
    nsv6313700copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 226,131,690-231,908,227 , GRCh38.p12 chr1: 225,943,990-231,772,481 ACTA1, PARP1, 167 more genes
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