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 : 4

* 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 5c.517delp.Gly174Aspfs*2Not classifiedTo be validated
 2017-04-28
exon 6c.731A>Gp.Tyr244CysNot classifiedTo be validated
 2017-04-28
exon 6c.815T>Cp.Leu272ProNot classifiedTo be validated
 2017-04-28
intron 6c.864+2T>C-Likely pathogenicTo be validated
 2019-02-26