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 : 5

*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 3
c.167C>T
p.(Ser56Phe)
S56P
Likely pathogenicTo be validated
 2021-05-27
exon 3
c.118-1G>C
p.Gly40_Lys43del
c.118-1G>C
PathogenicTo be validated
 2021-04-15
exon 3
c.121A>G
p.Met41Val
M41V
PathogenicTo be validated
 2020-11-18
exon 3
c.122T>C
p.Met41Thr
M41T
PathogenicTo be validated
 2020-11-18
exon 3
c.121A>C
p.Met41Leu
M41L
PathogenicTo be validated
 2020-11-18