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

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 11c.1300C>Tp.(Arg434*)Likely pathogenicTo be validated
 2019-01-24
exon 5c.487delp.(Gln163Serfs*39)Likely pathogenicTo be validated
 2019-01-24
exon 15c.1768A>Gp.?Uncertain significance (VOUS)To be validated
 2019-01-24
exon 6c.686_687dupp.(Cys230Profs*32)Likely pathogenicTo be validated
 2019-01-24
exon 16c.1800_1801delp.(Tyr600*)Likely pathogenicTo be validated
 2019-01-24
exon 5c.497C>Ap.(Ser166*)Likely pathogenicTo be validated
 2019-01-24
exon 8c.887A>Gp.(Glu296Gly)Uncertain significance (VOUS)To be validated
 2019-01-24
exon 8c.944C>Tp.(Ala315Val)Uncertain significance (VOUS)To be validated
 2019-01-24
exon 10c.1125+1G>Ap.?Likely pathogenicTo be validated
 2019-01-24
intron 11c.1180-5C>Gp.?BenignTo be validated
 2019-01-24
intron 13c.1551+1G>Ap.Ala486_Thr517delLikely pathogenicTo be validated
 2019-01-22
exon 15c.1752delp.(Glu584Aspfs*44)Likely pathogenicTo be validated
 2019-01-22
exon 4c.349C>Tp.(Arg117*)Likely pathogenicTo be validated
 2019-01-22
intron 9c.1101+1G>Ap.?Likely pathogenicTo be validated
 2019-01-22
exon 3c.210_211delp.(Val72Tyrfs*16)Likely pathogenicTo be validated
 2019-01-22
intron 11c.1352+1G>Ap.?Likely pathogenicTo be validated
 2019-01-22
exon 15c.1695T>Gp.(Tyr565*)Likely pathogenicTo be validated
 2019-01-22
exon 6c.632C>Gp.(Pro211Arg)Uncertain significance (VOUS)To be validated
 2019-01-22
exon 5c.553G>Ap.(Asp185Asn)Uncertain significance (VOUS)To be validated
 2019-01-22
intron 9c.996+7G>Ap.?Likely pathogenicTo be validated
 2019-01-22
intron 9c.1101+10A>Gp.?Likely benignTo be validated
 2019-01-22
exon 6c.647A>Cp.(Gln216Pro)Uncertain significance (VOUS)To be validated
 2019-01-22
exon 3c.223G>Ap.(Val75Ile)Uncertain significance (VOUS)To be validated
 2019-01-22
intron 5c.582+1del-Likely pathogenicTo be validated
 2019-01-22
exon 15c.1702C>Tp.(Gln568*)Likely pathogenicTo be validated
 2019-01-22
exon 11c.1258C>Tp.(Gln420*)Likely pathogenicTo be validated
 2019-01-22
exon 14c.1635C>Gp.(Tyr545*)Likely pathogenicTo be validated
 2019-01-22
exon 3c.278delp.(Pro93Leufs*15)Likely pathogenicTo be validated
 2019-01-22
exon 4c.344_351delp.(Thr115Asnfs*20)Likely pathogenicTo be validated
 2019-01-21