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
|
UNIPROT |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Here we report the finding of recurrent missense mutations in a CpG doublet of the transmembrane domain of the FGFR3 protein (glycine substituted with arginine at residue 380, G380R) in 17 sporadic cases and 6 unrelated familial forms of achondroplasia.
|
8078586 |
1994 |
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia.
|
8078586 |
1994 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
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 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
More than 95% of 242 cases reported so far are accounted for by a single Gly380Arg mutation.McKusick et al. proposed that achondroplasia and hypochondroplasia are allelic based on the similarities in phenotype between the two disorders and the identification of a severely dwarfed individual whose father had achondroplasia and whose mother had hypochondroplasia.
|
7670477 |
1995 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C).
|
7758520 |
1995 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
In an analysis of 19 achondroplasia families from a variety of ethnic backgrounds we confirmed the presence of the G380R mutation in 21 of 23 achondroplasia chromosomes studied.
|
7702086 |
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 |
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
BEFREE |
We report on a newborn with achondroplasia who does not carry a G380R mutation but has a mutation causing substitution of a nearby glycine with a cysteine (G375C).
|
7758520 |
1995 |
rs75790268
|
|
Achondroplasia
|
|
0.850 |
GeneticVariation
|
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
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 |
rs121913105
|
|
Achondroplasia
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Achondroplasia is defined by recurrent G380R mutations of FGFR3.
|
7847369 |
1995 |
rs28931614
|
|
Achondroplasia
|
|
0.900 |
GeneticVariation
|
BEFREE |
Our results support the argument that the G380R mutation of FGFR-3 is the most frequent mutation causing achondroplasia across different populations.
|
8682509 |
1996 |