UBA1 (NM_003334.4) sequence variants
(A1S9, A1ST, GXP1, UBE1, A1S9T, AMCX1, POC20, SMAX2, UBA1A, UBE1X, CFAP124)

Editor(s): David BECK   

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Total current number of sequence variants for UBA1 : 11

*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
intron 2
c.118-9_118-2del
p.?
c.118-9_118-2del
PathogenicTo be validated
 2022-01-102022-01-10
exon 3
c.167C>T
p.(Ser56Phe)
S56F
Likely pathogenicTo be validated
 2021-05-272021-11-24
exon 3
c.118-1G>C
p.Gly40_Lys43del
c.118-1G>C
PathogenicTo be validated
 2021-04-152021-11-09
exon 3
c.121A>C
p.Met41Leu
M41L
PathogenicTo be validated
 2020-11-182021-03-31
exon 3
c.122T>C
p.Met41Thr
M41T
PathogenicTo be validated
 2020-11-182021-03-31
exon 3
c.121A>G
p.Met41Val
M41V
PathogenicTo be validated
 2020-11-182021-03-31
intron 2
c.118-2A>G
p.?
c.118-2A>G
PathogenicTo be validated
 2022-09-19 
intron 2
c.118-2A>T
p.?
c.118-2A>T
Likely pathogenicTo be validated
 2022-09-19 
intron 2
c.118-3T>A
p.?
c.118-3T>A
Uncertain significance (VUS)To be validated
 2022-09-19 
exon 3
c.119G>C
p.(Gly40Ala)
G40A
Uncertain significance (VUS)To be validated
 2022-09-27 
exon 16
c.1861A>T
p.(Ser621Cys)
S621C
Uncertain significance (VUS)To be validated
 2022-09-19