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

Editor(s): Isabella CECCHERINI   

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  • Click above on the gene region(s) to see the variants
  • Drag and drop the different elements as you wish in the delimited zone
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      Reduce introns over px
       
           
             
    34 sequence variant(s) among 34  
 
 
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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*
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