rs121918492
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs121918488
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121918488
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs121918497
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1057519044
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs121913478
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121918487
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121918487
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121918491
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1434545235
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554927408
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs77543610
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs79184941
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs121918492
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
rs121918488
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
rs121918497
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
rs776587763
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.
|
7874170 |
1994 |
rs121918490
|
|
C |
0.710 |
CausalMutation |
CLINVAR |
Steroids in multiple sclerosis.
|
7989400 |
1994 |
rs121918487
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.
|
7987400 |
1994 |
rs121918492
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
rs121918492
|
|
|
0.810 |
GeneticVariation |
BEFREE |
We now report the finding of a mutation in exon IIIc of the FGFR2 gene in a kindred affected with Crouzon syndrome (C1043 to G; Ala344Gly) that is identical to the mutation previously associated with Jackson-Weiss syndrome.
|
7581378 |
1995 |
rs121918488
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
In addition, the Jackson-Weiss syndrome mutation, C342R, in exon IIIc was observed previously in other craniosynostotic syndromes, Crouzon and Pfeiffer.
|
8528214 |
1995 |
rs121918497
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
rs776587763
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.
|
8528214 |
1995 |
rs776587763
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.
|
7655462 |
1995 |