|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Cbl-mediated degradation of Lyn and Fyn induced by constitutive fibroblast growth factor receptor-2 activation supports osteoblast differentiation.
|
15190072 |
2004 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
|
11781872 |
2002 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS.
|
11390973 |
2001 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Two common mutations 934C to G and 937C to G of fibroblast growth factor receptor 2 (FGFR2) gene in Chinese patients with Apert syndrome.
|
9452027 |
1998 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
In Apert syndrome, characterised by syndactyly of the hands and feet, recurrent mutations of a serine-proline dipeptide (either Ser252Trp or Pro253Arg) in the linker between the IgII and IgIII extracellular immunoglobulin-like domains, have been documented in more than 160 unrelated individuals.
|
9002682 |
1997 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
|
7668257 |
1995 |
|
rs77543610
|
|
Apert syndrome
|
C |
0.900 |
CausalMutation
|
CLINVAR |
We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.
|
7719344 |
1995 |
|
rs77543610
|
|
Apert syndrome
|
|
0.900 |
GeneticVariation
|
UNIPROT |
We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.
|
7719344 |
1995 |
|
rs77543610
|
|
Pfeiffer Syndrome
|
C |
0.760 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77543610
|
|
Craniofacial dysostosis type 1
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
|
25867380 |
2015 |
|
rs77543610
|
|
Craniofacial dysostosis type 1
|
C |
0.710 |
CausalMutation
|
CLINVAR |
We detected several pathogenic mutations in 11/33 (33%) patients with Apert syndrome (four with p.Pro253Arg; seven with p.Ser252Trp) and 8/33 (24%) patients with Crouzon syndrome (three with p.Trp290Arg, one with p.Cys342Tyr, p.Cys278Phe, p.Gln289Pro, and a novel p.Tyr340Asn mutation) and five (15%) with Pfeiffer syndrome (p.Cys342Arg, p.Pro253Arg, p.Trp290Arg, and p.Ser351Cys).
|
24656465 |
2014 |
|
rs77543610
|
|
Craniofacial dysostosis type 1
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Dura in the pathogenesis of syndromic craniosynostosis: fibroblast growth factor receptor 2 mutations in dural cells promote osteogenic proliferation and differentiation of osteoblasts.
|
20489451 |
2010 |
|
rs77543610
|
|
Craniofacial dysostosis type 1
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.
|
17251833 |
2007 |
|
rs77543610
|
|
Craniofacial dysostosis type 1
|
C |
0.710 |
CausalMutation
|
CLINVAR |
P253R fibroblast growth factor receptor-2 mutation induces RUNX2 transcript variants and calvarial osteoblast differentiation.
|
15389579 |
2005 |
|
rs77543610
|
|
Craniofacial dysostosis type 1
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
|
9677057 |
1998 |
|
rs77543610
|
|
Craniofacial dysostosis type 1
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Apert syndrome mutations in fibroblast growth factor receptor 2 exhibit increased affinity for FGF ligand.
|
9700203 |
1998 |
|
rs77543610
|
|
Craniofacial dysostosis type 1
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
|
8651276 |
1996 |
|
rs77543610
|
|
Craniofacial dysostosis type 1
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Analysis of phenotypic features and FGFR2 mutations in Apert syndrome.
|
7668257 |
1995 |
|
rs77543610
|
|
Craniofacial dysostosis type 1
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
|
7719344 |
1995 |
|
rs77543610
|
|
Head and Neck Neoplasms
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Inhibitor-sensitive FGFR2 and FGFR3 mutations in lung squamous cell carcinoma.
|
23786770 |
2013 |
|
rs77543610
|
|
Antley-Bixler Syndrome, Autosomal Dominant
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77543610
|
|
BENT BONE DYSPLASIA SYNDROME
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77543610
|
|
Saethre-Chotzen Syndrome
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs77543610
|
|
Stomach Neoplasms
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|