Gene: FGFR3 ×
Source: INFERRED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931615
rs28931615
FGFR3
A 0.870 CausalMutation CLINVAR The A391E mutation enhances FGFR3 activation in the absence of ligand. 21536014

2011
dbSNP: rs28931615
rs28931615
FGFR3
A 0.870 CausalMutation CLINVAR Molecular tests identified the FGFR3 Ala391Glu substitution confirming the diagnosis of CAN. 20199409

2010
dbSNP: rs28931615
rs28931615
FGFR3
A 0.870 CausalMutation CLINVAR Pathogenic activation of receptor tyrosine kinases in mammalian membranes. 18976668

2008
dbSNP: rs28931615
rs28931615
FGFR3
A 0.870 CausalMutation CLINVAR Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation. 9857065

1998
dbSNP: rs28931615
rs28931615
FGFR3
A 0.870 CausalMutation CLINVAR Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034

1995
dbSNP: rs121913116
rs121913116
FGFR3
T 0.700 CausalMutation CLINVAR Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia. 16912704

2006
dbSNP: rs121913105
rs121913105
FGFR3
C 0.700 CausalMutation CLINVAR

dbSNP: rs121913482
rs121913482
FGFR3
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913483
rs121913483
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs28931614
rs28931614
FGFR3
A 0.700 CausalMutation CLINVAR

dbSNP: rs28933068
rs28933068
FGFR3
G 0.700 CausalMutation CLINVAR

dbSNP: rs4647924
rs4647924
FGFR3
G 0.700 CausalMutation CLINVAR