|
rs121913479
|
|
Achondroplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.
|
10587515 |
1999 |
|
rs28931615
|
|
Achondroplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Since the Ala391Glu substitution in FGFR3 is close to the substitutions in the transmembrane domain that result in achondroplasia, we carefully reviewed the skeletal findings in six patients.
|
11426459 |
2001 |
|
rs1211533350
|
|
Achondroplasia
|
|
0.030 |
GeneticVariation
|
BEFREE |
This assay, which is performed on the LightCycler thermocycler, enables the rapid and reliable detection of the two most common FGFR3 mutations associated with ACH (1138G --> A and 1138G --> C; G380R) and HYCH (1620C --> A and 1620 C --> G; N540K) in a single test.
|
15345118 |
2004 |
|
rs1211533350
|
|
Achondroplasia
|
|
0.030 |
GeneticVariation
|
BEFREE |
The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene.
|
10360393 |
1999 |
|
rs1211533350
|
|
Achondroplasia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Children with the common C1620A mutation met all of the criteria for the diagnosis of Hch with a severe phenotype that resembled achondroplasia and disproportionate short stature in early childhood.
|
9672519 |
1998 |
|
rs121913114
|
|
Achondroplasia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121913116
|
|
Achondroplasia
|
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 |
|
rs121913482
|
|
Achondroplasia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121913483
|
|
Achondroplasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs4647924
|
|
Achondroplasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28933068
|
|
Achondroplasia
|
|
0.750 |
GeneticVariation
|
BEFREE |
Most individuals with ACH have the recurrent mutation (p.Gly380Arg) in the transmembrane (TM) domain of the receptor and individuals with HCH show the common mutation (p.Asn540Lys) in the tyrosine kinase 1 (TK1) region.
|
31048079 |
2020 |
|
rs28933068
|
|
Achondroplasia
|
|
0.750 |
GeneticVariation
|
BEFREE |
This assay, which is performed on the LightCycler thermocycler, enables the rapid and reliable detection of the two most common FGFR3 mutations associated with ACH (1138G --> A and 1138G --> C; G380R) and HYCH (1620C --> A and 1620 C --> G; N540K) in a single test.
|
15345118 |
2004 |
|
rs28933068
|
|
Achondroplasia
|
|
0.750 |
GeneticVariation
|
BEFREE |
The mother has achondroplasia and carries the common G1138 (G380R) mutation in the FGFR3 gene; the father has hypochondroplasia due to the C1620A (N540K) mutation in the same gene.
|
10360393 |
1999 |
|
rs28933068
|
|
Achondroplasia
|
|
0.750 |
GeneticVariation
|
BEFREE |
Molecular testing showed both the G1138A and the C1620G mutations in FGFR3, confirming the diagnosis of achondroplasia-hypochondroplasia complex.
|
10360392 |
1999 |
|
rs28933068
|
|
Achondroplasia
|
|
0.750 |
GeneticVariation
|
BEFREE |
Children with the common C1620A mutation met all of the criteria for the diagnosis of Hch with a severe phenotype that resembled achondroplasia and disproportionate short stature in early childhood.
|
9672519 |
1998 |
|
rs28933068
|
|
Achondroplasia
|
G |
0.750 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28933068
|
|
Achondroplasia
|
A |
0.750 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation.
|
12297284 |
2002 |
|
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The transmembrane mutation G380R in fibroblast growth factor receptor 3 uncouples ligand-mediated receptor activation from down-regulation.
|
10611230 |
2000 |
|
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Constitutive activation of fibroblast growth factor receptor 3 by the transmembrane domain point mutation found in achondroplasia.
|
8599935 |
1996 |
|
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
|
7758520 |
1995 |
|
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
|
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
|
rs121913105
|
|
Achondroplasia
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
BEFREE |
Two mutations in FGFR3, G380R and G375C are known to cause achondroplasia, the most common form of human dwarfism.
|
22529939 |
2012 |