AP1S3 (NM_001039569.2) sequence variants

Editor(s): Francesca CAPON   

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ADA2ADAM17ALPK1AP1S3CARD14CDC42CEBPECOPAELF4F12HCK
IKBKGIL1R1IL1RNIL36RNLACC1LPIN2LYN
MEFVMVKNCSTNNLRC4NLRP1NLRP12NLRP3NLRP7NOD2OTULIN
PLCG1PLCG2POMPPSMA3PSMB10PSMB4PSMB8PSMB9PSMG2PSTPIP1
RBCK1RELARIPK1SAMD9LSH3BP2SLC29A3STING1
TNFAIP3TNFRSF11ATNFRSF1ATRAP1TRNT1UBA1WDR1

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Total current number of sequence variants for AP1S3 : 8

*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.11T>G
p.(Phe4Cys)
F4C
Not classifiedTo be validated
 2014-07-24 
exon 2
c.92T>C
p.(Ile31Thr)
I31T
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 2
c.95C>T
p.(Thr32Ile)
T32I
Uncertain significance (VUS)To be validated
 2019-07-16 
exon 2
c.97C>T
p.(Arg33Trp)
R33W
Not classifiedTo be validated
 2014-07-24 
exon 2
c.98G>A
p.(Arg33Gln)
R33Q
Uncertain significance (VUS)To be validated
 2019-11-08 
exon 3
c.235T>G
p.(Leu79Val)
L79V
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 3
c.248T>C
p.(Ile83Thr)
I83T
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 4
c.318T>A
p.(Asn106Lys)
N106K
Likely pathogenicTo be validated
 2019-05-13