rs121913485
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
|
9790257 |
1998 |
rs121913485
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
|
10671061 |
1998 |
rs121913485
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
|
8845844 |
1996 |
rs121913485
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
|
7773297 |
1995 |
rs121913485
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
|
8589699 |
1995 |
rs121913485
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
|
|
|
rs121913483
|
|
|
0.810 |
GeneticVariation |
BEFREE |
One patient had a pathogenic missense mutation of g.8535C>G (c.746C>G) in exon 7 of the FGFR3 gene consistent with Thanatophoric Dysplasia type I. Cytogenomic techniques were reliable for the analysis of autopsy material and allowed the identification of inter- and intra-tissue mosaicism and a better understanding of the pathogenesis of congenital malformations.
|
27450648 |
2016 |
rs121913479
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
|
10360402 |
1999 |
rs121913483
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
|
10360402 |
1999 |
rs121913479
|
|
|
0.810 |
GeneticVariation |
BEFREE |
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
|
9790257 |
1998 |
rs121913479
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
|
10671061 |
1998 |
rs121913479
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
In conclusion, we have identified the G370C mutation in the FGFR3 gene in a Japanese TD1 patient.
|
9790257 |
1998 |
rs121913483
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
|
10671061 |
1998 |
rs121913483
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
|
9790257 |
1998 |
rs121913479
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
|
8845844 |
1996 |
rs121913483
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
|
8845844 |
1996 |
rs121913479
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
|
7773297 |
1995 |
rs121913479
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
|
8589699 |
1995 |
rs121913483
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
|
8589699 |
1995 |
rs121913483
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
|
7773297 |
1995 |
rs121913479
|
|
T |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs121913483
|
|
G |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs121913484
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
|
10360402 |
1999 |
rs121913484
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
|
9790257 |
1998 |
rs121913484
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
|
10671061 |
1998 |