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

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
exon 1c.119A>Gp.(Gln40Arg)Not classifiedTo be validated
 2019-05-13
exon 5c.517delp.(Gly174Aspfs*2)Not classifiedTo be validated
 2017-04-28
exon 6c.606G>Cp.(Leu202Phe)Not classifiedTo be validated
 2019-05-13
exon 6c.731A>Gp.(Tyr244Cys)Not classifiedTo be validated
 2017-04-28
exon 6c.815T>Cp.(Leu272Pro)Not classifiedTo be validated
 2017-04-28
intron 6c.864+2T>C-Likely pathogenicTo be validated
 2019-02-26