Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28931615
rs28931615
FGFR3
0.870 GeneticVariation BEFREE The p.Ala391Glu change has been predominantly identified in patients with Crouzon syndrome with acanthosis nigricans. 31016899

2019
dbSNP: rs28931615
rs28931615
FGFR3
0.870 GeneticVariation BEFREE Crouzon syndrome with acanthosis nigricans is caused by the pathogenic variant c.1172C>A (p.Ala391Glu) in the FGFR3 gene. 28181399

2017
dbSNP: rs28931615
rs28931615
FGFR3
0.870 GeneticVariation BEFREE The A391E mutation in fibroblast growth factor receptor 3 (FGFR3) is the genetic cause for Crouzon syndrome with Acanthosis Nigricans. 23437153

2013
dbSNP: rs28931615
rs28931615
FGFR3
0.870 GeneticVariation BEFREE The associated of FGFR3 mutations with craniosynostosis has been restricted to three mutations, the common p.Pro250Arg in Muenke syndrome, p.Ala391Glu in Crouzon syndrome with acanthosis nigricans, and p.Pro250Leu identified in a family with isolated craniosynostosis. 22038757

2011
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
0.870 GeneticVariation UNIPROT The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation. 17935505

2007
dbSNP: rs28931615
rs28931615
FGFR3
0.870 GeneticVariation BEFREE The molecular abnormality associated with Crouzon syndrome with acanthosis nigricans (CAN) is a transition in the transmembrane domain of the FGFR3 gene that results in an Ala391Glu mutation. 17935505

2007
dbSNP: rs28931615
rs28931615
FGFR3
0.870 GeneticVariation BEFREE An example of a TM domain pathogenic mutation is the Ala391-->Glu mutation in fibroblast growth factor receptor 3 (FGFR3), linked to Crouzon syndrome with acanthosis nigricans, as well as to bladder cancer. 16384584

2006
dbSNP: rs28931615
rs28931615
FGFR3
0.870 GeneticVariation BEFREE Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. 11426459

2001
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
0.870 GeneticVariation UNIPROT Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. 7493034

1995
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