OTULIN (NM_138348.4) sequence variants
(GUM, AIPDS, FAM105B)

Editor(s): Ivona AKSENTIJEVICH   

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Total current number of sequence variants for OTULIN : 6

*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.119A>G
p.(Gln40Arg)
Q40R
Not classifiedTo be validated
 2019-05-13
exon 5
c.517del
p.(Gly174Aspfs*2)
G174Dfs*2
Not classifiedTo be validated
 2017-04-28
exon 6
c.606G>C
p.(Leu202Phe)
L202F
Not classifiedTo be validated
 2019-05-13
exon 6
c.731A>G
p.(Tyr244Cys)
Y244C
Not classifiedTo be validated
 2017-04-28
exon 6
c.815T>C
p.(Leu272Pro)
L272P
Not classifiedTo be validated
 2017-04-28
intron 6
c.864+2T>C
-
c.864+2T>C
Likely pathogenicTo be validated
 2019-02-26