SH3BP2 (NM_003023.4) sequence variants
(3BP2/CRBM/CRPM/RES4-23/FLJ42079/FLJ54978/SH3-domain binding protein 2)

Editor(s): Ernst REICHENBERGER   

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

Total current number of sequence variants for SH3BP2 : 18

*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 3c.147delp.Phe50Leufs*26
exon 4c.320C>Tp.Thr107Met
exon 6c.464C>Tp.Ala155Val
exon 9c.1243C>Tp.Arg415*
exon 9c.1244G>C p.Arg415Pro
exon 9c.1244G>Ap.Arg415Gln
exon 9c.1252C>Ap.Pro418Thr
exon 9c.1253C>Tp.Pro418Leu
exon 9c.1253C>Ap.Pro418His
exon 9c.1253C>G p.Pro418Arg
exon 9c1253_1254delCCinsATp.Pro418His
exon 9c.1255G>Ap.Asp419Asn
exon 9c.1255G>Tp.Asp419Tyr
exon 9c.1256A>Gp.Asp419Gly
exon 9c.1258G>C p.Gly420Arg
exon 9c.1258G>Ap.Gly420Arg
exon 9c.1259G>Ap.Gly420Glu
exon 11c.1442A>Tp.Gln481Leu