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

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 3c.235T>Gp.(Leu79Val)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 3c.248T>Cp.(Ile83Thr)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 4c.318T>Ap.(Asn106Lys)Likely pathogenicTo be validated
 2019-05-13
exon 2c.92T>Cp.(Ile31Thr)Uncertain significance (VOUS)To be validated
 2019-05-13
exon 2c.11T>Gp.Phe4CysNot classifiedTo be validated
 2014-07-24
exon 2c.97C>Tp.Arg33TrpNot classifiedTo be validated
 2014-07-24