AP1S3 (NM_001039569.1) sequence variants

Editor(s): Francesca CAPON   

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Total current number of sequence variants for AP1S3 : 6

* 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
F4C
exon 2
c.11T>G
p.(Phe4Cys)Not classifiedTo be validated
 2014-07-24
I31T
exon 2
c.92T>C
p.(Ile31Thr)Uncertain significance (VOUS)To be validated
 2019-05-13
R33W
exon 2
c.97C>T
p.(Arg33Trp)Not classifiedTo be validated
 2014-07-24
L79V
exon 3
c.235T>G
p.(Leu79Val)Uncertain significance (VOUS)To be validated
 2019-05-13
I83T
exon 3
c.248T>C
p.(Ile83Thr)Uncertain significance (VOUS)To be validated
 2019-05-13
N106K
exon 4
c.318T>A
p.(Asn106Lys)Likely pathogenicTo be validated
 2019-05-13