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

Editor(s): Hiroaki IDA   Nobuo KANAZAWA   

Home Page Tabular list Sequences Download Useful links Statistics Contact Submit a novel sequence variant Submit a novel complex allele

🔎

Total current number of sequence variants for PSMB8 : 16

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