rs4647924
|
|
G |
0.900 |
CausalMutation |
CLINVAR |
|
|
|
rs121913105
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121913482
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121913483
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28931614
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs28933068
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs4647924
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
|
9042914 |
1997 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
|
9600744 |
1998 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation.
|
9950359 |
1999 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
UNIPROT |
Syndrome of coronal craniosynostosis, Klippel-Feil anomaly, and sprengel shoulder with and without Pro250Arg mutation in the FGFR3 gene.
|
11746040 |
2001 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.
|
14613973 |
2004 |
rs374608214
|
|
|
0.040 |
GeneticVariation |
BEFREE |
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.
|
14613973 |
2004 |
rs121909627
|
|
|
0.030 |
GeneticVariation |
BEFREE |
However, unlike the Apert syndrome Pro253Arg FGFR2c mutant, neither the Pfeiffer syndrome Pro250Arg FGFR1c mutant nor the Muenke syndrome Pro250Arg FGFR3c mutant bound appreciably to FGF7 or FGF10.
|
14613973 |
2004 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities.
|
17103449 |
2006 |
rs121913116
|
|
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 |
rs1318358361
|
|
|
0.040 |
GeneticVariation |
BEFREE |
P250R mutation in the FGFR3 gene also known as Muenke syndrome is associated with coronal craniosynostosis, sensorineural deafness, craniofacial, and digital abnormalities.
|
17103449 |
2006 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The identification of the P250R mutation allowed the confirmation of the Muenke Syndrome in 9 out of the 52 cases referred.
|
19215249 |
2009 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
The heterozygous Pro250Arg substitution mutation in fibroblast growth factor receptor 3 (FGFR3), which increases ligand-dependent signalling, is the most common genetic cause of craniosynostosis in humans and defines Muenke syndrome.
|
18818193 |
2009 |
rs1318358361
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The identification of the P250R mutation allowed the confirmation of the Muenke Syndrome in 9 out of the 52 cases referred.
|
19215249 |
2009 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Here, we report a familial case of MS in a female patient with a Pro250Arg mutation in exon 7 (IgII-IGIII linker domain) of the FGFR3 gene.
|
20592905 |
2010 |
rs4647924
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
rs1318358361
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
rs374608214
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
rs79184941
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Fibroblasts from 10 individuals each with Apert syndrome (FGFR2 substitution S252W), Muenke syndrome (FGFR3 substitution P250R), Saethre-Chotzen syndrome (various mutations in TWIST1) and non-syndromic sagittal synostosis (no mutation detected) were cultured.
|
19755431 |
2010 |
rs4647924
|
|
|
0.900 |
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 |