NCSTN (NM_015331.3) sequence variants
(ATAG1874, APH2, KIAA0253)

Editor(s): Isabella CECCHERINI   

Build your graph

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     35 sequence variant(s) among 35

Show the select menu

1   2   3   4   5   6   7   8   9   10   11   12   13   14   15   16   17       NCSTN - NM_015331.3 2024-12-22 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   G33R Intron 2X No variants Exon 3 X   V72Yfs*16   V75I   P93Lfs*15 Intron 3X No variants Exon 4 X   T115Nfs*20   R117*   p.R117Q Intron 4X No variants Exon 5 X   I162Yfs*40   Q163Sfs*39   S166*   F181S   D185N Intron 5X   c.582+1del Exon 6 X   P211R   Q216P   S219Ffs*31   C230Pfs*32 Intron 6X No variants Exon 7 X No variants Intron 7X No variants Exon 8 X   E296G   A315V Intron 8X No variants Exon 9 X No variants Intron 9X   c.996+7G>A   c.1101+1G>A   c.1101+10A>G Exon 10 X   p.?   D381Sfs*7 Intron 10X No variants Exon 11 X   Q420*   R434* Intron 11X   c.1180-5C>G   c.1352+1G>A Exon 12 X No variants Intron 12X No variants Exon 13 X No variants Intron 13X   c.1551+1G>A Exon 14 X   Y545* Intron 14X No variants Exon 15 X   Y565*   Q568*   E584Dfs*44   p.? Intron 15X No variants Exon 16 X   Y600* Intron 16X No variants Exon 17 X No variants 3' UTR X No variants 3' flanking X No variants