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

Editor(s): Ernst REICHENBERGER   

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Total current number of sequence variants for SH3BP2 : 18

* 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 3c.147delp.Phe50Leufs*26Not classifiedNot validated
 2011-09-01
exon 4c.320C>Tp.Thr107MetNot classifiedNot validated
 2010-04-14
exon 6c.464C>Tp.Ala155ValNot classifiedNot validated
 2014-01-19
exon 9c.1243C>Tp.Arg415* Not classifiedNot validated
 2014-10-21
exon 9c.1244G>C p.Arg415ProNot classifiedNot validated
 2010-04-12
exon 9c.1244G>Ap.Arg415GlnNot classifiedNot validated
 2010-04-12
exon 9c.1252C>Ap.Pro418ThrNot classifiedNot validated
 2010-04-12
exon 9c.1253C>Tp.Pro418LeuNot classifiedNot validated
 2010-04-12
exon 9c.1253C>Ap.Pro418His Not classifiedNot validated
 2010-04-12
exon 9c.1253C>G p.Pro418Arg Not classifiedNot validated
 2011-02-28
exon 9c1253_1254delCCinsATp.Pro418HisNot classifiedNot validated
 2014-01-02
exon 9c.1255G>Ap.Asp419AsnNot classifiedNot validated
 2010-04-14
exon 9c.1255G>Tp.Asp419TyrNot classifiedNot validated
 2013-06-05
exon 9c.1256A>Gp.Asp419GlyNot classifiedNot validated
 2010-04-12
exon 9c.1258G>C p.Gly420ArgNot classifiedNot validated
 2010-04-12
exon 9c.1258G>Ap.Gly420ArgNot classifiedNot validated
 2010-04-13
exon 9c.1259G>Ap.Gly420GluNot classifiedNot validated
 2010-04-12
exon 11c.1442A>Tp.Gln481LeuNot classifiedNot validated
 2010-04-14