PSMB8 (NM_148919.3) sequence variants
(beta5i, D6S216E, PSMB5i, RING10)

Editor(s): Hiroaki IDA   Nobuo KANAZAWA   

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Total current number of sequence variants for PSMB8 : 16

*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 1
c.22G>A
p.(Gly8Arg)
G8R
BenignTo be validated
 2014-12-18
exon 1
c.145C>A
p.(Gln49Lys)
Q49K
BenignTo be validated
 2013-07-01
exon 2
c.220A>T
p.(Thr74Ser)
T74S
Likely pathogenicTo be validated
 2012-09-05
exon 2
c.224C>T
p.(Thr75Met)
T75M
PathogenicTo be validated
 2011-09-05
exon 2
c.240C>G
p.(Phe80Leu)
F80L
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 2
c.271C>T
p.(Arg91Trp)
R91W
Likely pathogenicTo be validated
 2018-03-19
exon 2
c.274G>A
p.(Ala92Thr)
A92T
PathogenicTo be validated
 2015-01-05
exon 2
c.280G>C
p.(Ala94Pro)
A94P
PathogenicTo be validated
 2018-02-22
exon 3
c.313A>C
p.(Lys105Gln)
K105Q
Likely pathogenicTo be validated
 2016-02-12
exon 3
c.349A>G
p.(Met117Val)
M117V
PathogenicTo be validated
 2013-05-30
exon 3
c.374A>C
p.(Gln125Pro)
Q125P
PathogenicTo be validated
 2019-05-21
exon 3
c.405C>A
p.(Cys135*)
C135X
PathogenicTo be validated
 2011-10-02
exon 5
c.602G>T
p.(Gly201Val)
G201V
PathogenicTo be validated
 2011-09-05
exon 5
c.701A>G
p.(Tyr234Cys)
Y234C
Uncertain significance (VOUS)To be validated
 2019-05-13
3UT
c.*8G>A
p.?
*8G>A
Uncertain significance (VOUS)To be validated
 2019-05-13
3UT
c.*20G>C
p.?
*20G>C
Uncertain significance (VOUS)To be validated
 2019-05-13