PSMB9 (NM_002800.5) sequence variants
(LMP2, PSMB6i, RING12, beta1i)

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for PSMB9 : 6

*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.94G>A
p.(Val32Ile)
V32I
Uncertain significance (VUS)To be validated
 2019-07-16 
intron 2
c.128+1G>A
p.?
128+1G>A
Likely pathogenicTo be validated
 2019-05-13 
exon 3
c.178C>T
p.(Arg60Cys)
R60C
Uncertain significance (VUS)To be validated
 2019-05-13 
exon 5
c.467G>A
p.(Gly156Asp)
G156D
Likely pathogenicTo be validated
 2021-05-272021-11-27
exon 5
c.494G>A
p.(Gly165Asp)
G165D
Not classifiedTo be validated
 2017-05-172021-02-01
exon 5
c.517C>T
p.(Arg173Cys)
R173C
Uncertain significance (VUS)To be validated
 2019-05-13