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

* 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
Q40R
exon 1
c.119A>G
p.(Gln40Arg)Not classifiedTo be validated
 2019-05-13
L202F
exon 6
c.606G>C
p.(Leu202Phe)Not classifiedTo be validated
 2019-05-13
c.864+2T>C
intron 6
c.864+2T>C
-Likely pathogenicTo be validated
 2019-02-26
L272P
exon 6
c.815T>C
p.(Leu272Pro)Not classifiedTo be validated
 2017-04-28
Y244C
exon 6
c.731A>G
p.(Tyr244Cys)Not classifiedTo be validated
 2017-04-28
G174Dfs*2
exon 5
c.517del
p.(Gly174Aspfs*2)Not classifiedTo be validated
 2017-04-28