RBCK1 (NM_031229.2) sequence variants
(heme-oxidized IRP2 ubiquitin ligase 1, HOIL1, RBCK2, RNF54, UBCE7IP3, XAP4, ZRANB4)

Editor(s): Isabelle TOUITOU   

How to submit a novel simple allele ?   How to submit a novel complex allele ?

Total current number of sequence variants for RBCK1 : 2

*This classification is proposed by the INSAID study group. "A new workflow for classification of genetic variants pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic AutoInflammatory Diseases (INSAID)" by Marielle E. Van Gijn, Isabella Ceccherini, Yael Shinar Ellen C. Carbo, Mariska Slofstra, Juan I. Arostegui, Guillaume Sarrabay, Dorota Rowczenio, Ebun Omoyinmi, Banu Peynircioglu, Hal M. Hoffman, Florian Milhavet, Morris A. Swertz, Isabelle Touitou. JMG In press

HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
exon 2c.121_122delCTp.Leu41fs*7
exon 5c.553C>Tp.Gln185*