|
rs28931614
|
|
Achondroplasia
|
A |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28931614
|
|
Achondroplasia
|
C |
0.900 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs75790268
|
|
Achondroplasia
|
T |
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121913105
|
|
Achondroplasia
|
C |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28933068
|
|
Achondroplasia
|
G |
0.750 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28933068
|
|
Achondroplasia
|
A |
0.750 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs4647924
|
|
Achondroplasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121913483
|
|
Achondroplasia
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121913482
|
|
Achondroplasia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs121913114
|
|
Achondroplasia
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
2 chorionic villi samples had a G380R mutation due to a mother with ACH; 4 amniotic fluid samples with TDs in which the foetuses had micromelia plus hypoplastic thoraces; 5 samples from abortuses with TDs.
|
19789973 |
2009 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Achondroplasia was due to the G380R FGF3R mutation and hypochondroplasia to a N540K mutation in the same gene.
|
12476453 |
2003 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Achondroplasia in Sweden caused by the G1138A mutation in FGFR3.
|
9001669 |
1996 |
|
rs121913479
|
|
Achondroplasia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Gly369Cys mutation in mouse FGFR3 causes achondroplasia by affecting both chondrogenesis and osteogenesis.
|
10587515 |
1999 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
A 2-year-old boy with clinical features consistent with achondroplasia and Silver-Russell syndrome-like symptoms was found to carry a mutation in the fibroblast growth factor receptor-3 (FGFR3) gene at c.1138G > A (p.Gly380Arg) and a de novo 574 kb duplication at chromosome 7p12.1 that involved the entire growth-factor receptor bound protein 10 (GRB10) gene.
|
27370225 |
2016 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
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 |
|
rs75790268
|
|
Achondroplasia
|
|
0.850 |
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 |
A glycine 375-to-cysteine substitution in the transmembrane domain of the fibroblast growth factor receptor-3 in a newborn with achondroplasia.
|
7758520 |
1995 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
A group of unrelated patients (n=82), characterized by short stature, dysmorphology and X-ray abnormalities, of which mucopolysacharidoses, GM1 gangliosidosis, mucolipidosis type II/III and achondroplasia owing to FGFR3 G380R mutation had been excluded, were recruited in this study.
|
26377240 |
2015 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
A mouse model for achondroplasia was generated by introducing the human mutation (glycine 380-arginine) into the mouse fibroblast growth factor receptor 3 (G374R) by a "knock-in" approach using gene targeting leading to a constitutively active receptor.
|
11518810 |
2001 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
|
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
|
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Although 98% of ACH cases are accounted for by a single G380R substitution in the TM, a common mutation (N540K) in the TK1 region is detected in only 60-65% of HCH cases.
|
16912704 |
2006 |
|
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
An exclusive paternal origin of mutations, and increased paternal age, were previously described for a different mutation (c.1138G>A) of the FGFR3 gene causing achondroplasia, as well as for mutations of the related FGFR2 gene causing Apert, Crouzon and Pfeiffer syndromes.
|
15241680 |
2004 |