PSMB4 (NM_002796.2) sequence variants
(HN3, HsN3, PROS26, PROS-26)

Editor(s): Ivona AKSENTIJEVICH   

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 PSMB4 : 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
5UT
c.-9G>A
p.0
c.-9G>A
Not classifiedTo be validated
 2017-05-17
exon 1
c.2T>C
p.?
M1T
Likely pathogenicTo be validated
 2019-05-13
exon 1
c.43G>C
p.(Gly15Arg)
G15R
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 1
c.44_45insG
p.(Pro16Serfs*45)
p.P16Sfs*45
Not classifiedTo be validated
 2017-05-17
exon 3
c.479A>G
p.(Tyr160Cys)
Y160C
Likely pathogenicTo be validated
 2019-05-13
exon 5
c.634_642del
p.(Asp212_Val214del)
p.D212_V214del
Not classifiedTo be validated
 2017-05-17
exon 5
c.666C>A
p.(Tyr222*)
Y222X
Not classifiedTo be validated
 2017-09-06
3UT
c.*45delT
p.?
*45delT
Uncertain significance (VOUS)To be validated
 2019-05-13