present in Gene: GPC3
present in Chromosome: X
Position on Chromosome: 133699902
Alleles of this Variant: G/A
rs122453121 in
GPC3 gene and
Nephroblastoma
PMID 24459012 2014 Somatic CTNNB1 mutation in hepatoblastoma from a patient with Simpson-Golabi-Behmel syndrome and germline GPC3 mutation.
PMID 17603795 2007 GPC3 mutations in seven patients with Simpson-Golabi-Behmel syndrome.
PMID 17850639 2007 Germinal mosaicism in Simpson-Golabi-Behmel syndrome.