From: The role of SH3BP2 in the pathophysiology of cherubism
Nucleotide change | Amino acid change | Exon | Phenotype | Detection | Literature |
---|---|---|---|---|---|
c.1244G>C | p.Arg415Pro | 9 | cherubism | germline | Ueki et al. (2001) |
c.1244G>A | p.Arg415Gln | 9 | cherubism | germline | Ueki et al. (2001) |
c.1253C>T | p.Pro418Leu | 9 | cherubism | germline | Ueki et al. (2001) |
c.1253C>G | p.Pro418Arg | 9 | cherubism | germline | Ueki et al. (2001) |
c.1253C>A | p.Pro418His | 9 | cherubism | germline | Ueki et al. (2001) |
c.1252C>A | p.Pro418Thr | 9 | cherubism | germline | de Lange et al. (2007) |
c.1256A>G | p.Gln419Gly | 9 | cherubism | germline | Li and Yu (2006) |
c.1255G>A | p.Asp419Asn | 9 | cherubism | germline | Lietman et al. (2006) |
c.1258G>C | p.Gly420Arg | 9 | cherubism | germline | Ueki et al. (2001) |
c.1258G>A | p.Gly420Arg | 9 | cherubism | germline | Lo et al. (2001) |
c.1259G>A | p.Gly420Glu | 9 | cherubism | germline | Ueki et al. (2001) |
c.147delCtranslation stop at nt325 (TGA) | p.Arg49ArgfsX26 | 3 | severe cherubism | germline | Carvalho et al. (2008) |
c.320C>T | p.Thr107Met | 4 | cherubism | germline | Carvalho et al. (2009) |
c.1442A>T | p.Gln481Leu | 11 | giant cell granuloma | somatic | Carvalho et al. (2009) |