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 : 30

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

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

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 2
c.97G>A
p.(Gly33Arg)
G33R
Likely pathogenicTo be validated
 2019-11-08
exon 3
c.210_211del
p.(Val72Tyrfs*16)
Thr70fsX18
Likely pathogenicTo be validated
 2019-01-22
exon 3
c.223G>A
p.(Val75Ile)
V75I
Uncertain significance (VUS)To be validated
 2019-01-22
exon 3
c.278del
p.(Pro93Leufs*15)
p.P73Lfs*15
Likely pathogenicTo be validated
 2019-01-22
exon 4
c.344_351del
p.(Thr115Asnfs*20)
T115fs
Likely pathogenicTo be validated
 2019-01-21
exon 4
c.349C>T
p.(Arg117*)
R117X
Likely pathogenicTo be validated
 2019-01-22
exon 5
c.487del
p.(Gln163Serfs*39)
p.Gln163SerfsX39
Likely pathogenicTo be validated
 2019-01-24
exon 5
c.497C>A
p.(Ser166*)
S166X
Likely pathogenicTo be validated
 2019-01-24
exon 5
c.553G>A
p.(Asp185Asn)
D185N
Uncertain significance (VUS)To be validated
 2019-01-22
intron 5
c.582+1del
-
c.582+1delG
Likely pathogenicTo be validated
 2019-01-22
exon 6
c.632C>G
p.(Pro211Arg)
P211R
Uncertain significance (VUS)To be validated
 2019-01-22
exon 6
c.647A>C
p.(Gln216Pro)
Q216P
Uncertain significance (VUS)To be validated
 2019-01-22
exon 6
c.686_687dup
p.(Cys230Profs*32)
c.687insCC
Likely pathogenicTo be validated
 2019-01-24
exon 8
c.887A>G
p.(Glu296Gly)
c.887A>G
Uncertain significance (VUS)To be validated
 2019-01-24
exon 8
c.944C>T
p.(Ala315Val)
A315V
Uncertain significance (VUS)To be validated
 2019-01-24
intron 9
c.996+7G>A
p.?
c.996+7G>A
Likely pathogenicTo be validated
 2019-01-22
intron 9
c.1101+1G>A
p.?
c.1101+1G>A
Likely pathogenicTo be validated
 2019-01-22
intron 9
c.1101+10A>G
p.?
c.1101+10A>G
Likely benignTo be validated
 2019-01-22
exon 10
c.1125+1G>A
p.?
c.1125+1G>A
Likely pathogenicTo be validated
 2019-01-24
intron 11
c.1180-5C>G
p.?
c.1180-5C>G
BenignTo be validated
 2019-01-24
exon 11
c.1258C>T
p.(Gln420*)
Q420X
Likely pathogenicTo be validated
 2019-01-22
exon 11
c.1300C>T
p.(Arg434*)
p.Arg434X
Likely pathogenicTo be validated
 2019-01-24
intron 11
c.1352+1G>A
p.?
c.1352+1G>A
Likely pathogenicTo be validated
 2019-01-22
intron 13
c.1551+1G>A
p.(Ala486_Thr517del)
c.1551+1G>A
Likely pathogenicTo be validated
 2019-01-22
exon 14
c.1635C>G
p.(Tyr545*)
Y545X
Likely pathogenicTo be validated
 2019-01-22
exon 15
c.1695T>G
p.(Tyr565*)
Y565X
Likely pathogenicTo be validated
 2019-01-22
exon 15
c.1702C>T
p.(Gln568*)
Q568X
Likely pathogenicTo be validated
 2019-01-22
exon 15
c.1752del
p.(Glu584Aspfs*44)
E584DfsX44
Likely pathogenicTo be validated
 2019-01-22
exon 15
c.1768A>G
p.?
c.1768A>G
Uncertain significance (VUS)To be validated
 2019-01-24
exon 16
c.1800_1801del
p.(Tyr600*)
c.1799delTG
Likely pathogenicTo be validated
 2019-01-24