Variant: rs121909146 

    present in Gene: SH3BP2
    present in Chromosome: 4
    Position on Chromosome: 2831582
    Alleles of this Variant: C/A;G;T

rs121909146 in SH3BP2 gene and Cherubism PMID 14577811 2003 The missense mutation Pro418Arg was identified in the SH3BP2 gene from a nonfamilial case of cherubism.

PMID 11381256 2001 Mutations in the gene encoding c-Abl-binding protein SH3BP2 cause cherubism.

PMID 12900899 2003 Novel mutation in the gene encoding c-Abl-binding protein SH3BP2 causes cherubism.