NCSTN (NM_015331.2) sequence variants
(ATAG1874, APH2, KIAA0253)

Editor(s): Guilaine BOURSIER   

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Total current number of sequence variants for NCSTN : 29

* If you have new data: please send us a re-evaluation proposal here

Usual name*
HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
p.Arg434X
exon 11
c.1300C>T
p.(Arg434*)Likely pathogenicTo be validated
 2019-01-24
p.Gln163SerfsX39
exon 5
c.487del
p.(Gln163Serfs*39)Likely pathogenicTo be validated
 2019-01-24
c.1768A>G
exon 15
c.1768A>G
p.?Uncertain significance (VOUS)To be validated
 2019-01-24
c.687insCC
exon 6
c.686_687dup
p.(Cys230Profs*32)Likely pathogenicTo be validated
 2019-01-24
c.1799delTG
exon 16
c.1800_1801del
p.(Tyr600*)Likely pathogenicTo be validated
 2019-01-24
S166X
exon 5
c.497C>A
p.(Ser166*)Likely pathogenicTo be validated
 2019-01-24
c.887A>G
exon 8
c.887A>G
p.(Glu296Gly)Uncertain significance (VOUS)To be validated
 2019-01-24
A315V
exon 8
c.944C>T
p.(Ala315Val)Uncertain significance (VOUS)To be validated
 2019-01-24
c.1125+1G>A
exon 10
c.1125+1G>A
p.?Likely pathogenicTo be validated
 2019-01-24
c.1180-5C>G
intron 11
c.1180-5C>G
p.?BenignTo be validated
 2019-01-24
c.1551+1G>A
intron 13
c.1551+1G>A
p.(Ala486_Thr517del)Likely pathogenicTo be validated
 2019-01-22
E584DfsX44
exon 15
c.1752del
p.(Glu584Aspfs*44)Likely pathogenicTo be validated
 2019-01-22
R117X
exon 4
c.349C>T
p.(Arg117*)Likely pathogenicTo be validated
 2019-01-22
c.1101+1G>A
intron 9
c.1101+1G>A
p.?Likely pathogenicTo be validated
 2019-01-22
Thr70fsX18
exon 3
c.210_211del
p.(Val72Tyrfs*16)Likely pathogenicTo be validated
 2019-01-22
c.1352+1G>A
intron 11
c.1352+1G>A
p.?Likely pathogenicTo be validated
 2019-01-22
Y565X
exon 15
c.1695T>G
p.(Tyr565*)Likely pathogenicTo be validated
 2019-01-22
P211R
exon 6
c.632C>G
p.(Pro211Arg)Uncertain significance (VOUS)To be validated
 2019-01-22
D185N
exon 5
c.553G>A
p.(Asp185Asn)Uncertain significance (VOUS)To be validated
 2019-01-22
c.996+7G>A
intron 9
c.996+7G>A
p.?Likely pathogenicTo be validated
 2019-01-22
c.1101+10A>G
intron 9
c.1101+10A>G
p.?Likely benignTo be validated
 2019-01-22
Q216P
exon 6
c.647A>C
p.(Gln216Pro)Uncertain significance (VOUS)To be validated
 2019-01-22
V75I
exon 3
c.223G>A
p.(Val75Ile)Uncertain significance (VOUS)To be validated
 2019-01-22
c.582+1delG
intron 5
c.582+1del
-Likely pathogenicTo be validated
 2019-01-22
Q568X
exon 15
c.1702C>T
p.(Gln568*)Likely pathogenicTo be validated
 2019-01-22
Q420X
exon 11
c.1258C>T
p.(Gln420*)Likely pathogenicTo be validated
 2019-01-22
Y545X
exon 14
c.1635C>G
p.(Tyr545*)Likely pathogenicTo be validated
 2019-01-22
p.P73Lfs*15
exon 3
c.278del
p.(Pro93Leufs*15)Likely pathogenicTo be validated
 2019-01-22
T115fs
exon 4
c.344_351del
p.(Thr115Asnfs*20)Likely pathogenicTo be validated
 2019-01-21