UBA1 (NM_003334.4) sequence variants
(A1S9, A1ST, GXP1, UBE1, A1S9T, AMCX1, POC20, SMAX2, UBA1A, UBE1X, CFAP124)

Editor(s): David BECK   

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How to proceed? Hide Select the type and color of the items you want to display ☞ Choose the size of police and the shape of the columns displaying the variants ☞ Reduce or not the intron length, then Apply ☞ Click above ☟ on the gene region(s) to see the variants Drag and drop the different elements as you wish in the delimited zone Screenshot / Download and cite us!

Classification Color   Status Color   Alteration Color     Pathogenic   Validated     Deletion   Police size Small Medium Large   Sort on 1 2 3 4 5 columns Likely pathogenic   Provisional     Duplication   VUS   Unsolved     Insertion   Likely benign   To be validated     Substitution   Reduce introns over px Benign   All       Delins   Unsolved           All     Not classified               All     16 sequence variant(s) among 16

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1     2   3   4   5   6   7   8   9   10   11   12   13   14   15   16   17   18   19   20   21   22   23   24   25   26       UBA1 - NM_003334.4 2024-05-01 Flanking region UTR region Exonic region Intronic region   5' flanking X No variants X 5' UTR No variants Exon 1 X No variants Intron 1X No variants Exon 2 X No variants Intron 2X   c.118-9_118-2del   c.118-3T>A   c.118-2A>T   c.118-2A>G Exon 3 X   p.G40_K43del   G40A   p.M41V   p.M41L   M41L   p.M41T   S56F Intron 3X No variants Exon 4 X No variants Intron 4X No variants Exon 5 X No variants Intron 5X No variants Exon 6 X No variants Intron 6X No variants Exon 7 X No variants Intron 7X No variants Exon 8 X   T233I Intron 8X No variants Exon 9 X No variants Intron 9X No variants Exon 10 X No variants Intron 10X No variants Exon 11 X No variants Intron 11X No variants Exon 12 X No variants Intron 12X No variants Exon 13 X No variants Intron 13X No variants Exon 14 X   G477A Intron 14X No variants Exon 15 X No variants Intron 15X No variants Exon 16 X   N606I   S621C Intron 16X No variants Exon 17 X No variants Intron 17X No variants Exon 18 X No variants Intron 18X No variants Exon 19 X No variants Intron 19X No variants Exon 20 X No variants Intron 20X No variants Exon 21 X No variants Intron 21X No variants Exon 22 X No variants Intron 22X No variants Exon 23 X   I894S Intron 23X No variants Exon 24 X No variants Intron 24X No variants Exon 25 X No variants Intron 25X No variants Exon 26 X No variants 3' UTR X No variants 3' flanking X No variants