|
rs79184941
|
|
Apert syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Use of Targeted Exome Sequencing for Molecular Diagnosis of Skeletal Disorders.
|
26380986 |
2015 |
|
rs79184941
|
|
Apert syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
We utilized a Fgfr2(+/S252W) mouse (a knock-in mouse model mimicking human AS) to demonstrate decreased bone mass due to reduced trabecular bone volume, reduced bone mineral density, and shortened growth plates in the long bones.
|
24489893 |
2014 |
|
rs79184941
|
|
Apert syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
We report two Indonesian patients with AS, in whom molecular analysis detected p.Ser252Trp (c.755C>G) and p.Pro253Arg (c.758C>G) mutations in the fibroblast growth factor receptor 2 (FGFR2) gene, respectively.
|
23546041 |
2013 |
|
rs79184941
|
|
Apert syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Abnormalities in cartilage and bone development in the Apert syndrome FGFR2(+/S252W) mouse.
|
15975938 |
2005 |
|
rs79184941
|
|
Apert syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Here we show that mutant mice carrying the activation mutation, Ser252Trp [corrected] which corresponds to Ser252Trp in human FGFR2, have malformations mimicking the skull abnormalities found in AS patients.
|
14499350 |
2003 |
|
rs79184941
|
|
Apert syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Two activating mutations, Ser-252 --> Trp and Pro-253 --> Arg, in fibroblast growth factor receptor 2 (FGFR2) account for nearly all known cases of AS.
|
11390973 |
2001 |
|
rs79184941
|
|
Apert syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Loss of fibroblast growth factor receptor 2 ligand-binding specificity in Apert syndrome.
|
11121055 |
2000 |
|
rs79184941
|
|
Apert syndrome
|
C |
0.800 |
CausalMutation
|
CLINVAR |
We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied.
|
7719344 |
1995 |
|
rs79184941
|
|
Craniofacial dysostosis type 1
|
C |
0.720 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs79184941
|
|
Pfeiffer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
|
25867380 |
2015 |
|
rs79184941
|
|
Pfeiffer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
A Ser252Trp mutation in fibroblast growth factor receptor 2 (FGFR2) mimicking human Apert syndrome reveals an essential role for FGF signaling in the regulation of endochondral bone formation.
|
24489893 |
2014 |
|
rs79184941
|
|
Pfeiffer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
The Fgfr2(S252W/+) mutation in mice retards mandible formation and reduces bone mass as in human Apert syndrome.
|
23495007 |
2013 |
|
rs79184941
|
|
Pfeiffer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Mesodermal expression of Fgfr2S252W is necessary and sufficient to induce craniosynostosis in a mouse model of Apert syndrome.
|
22664175 |
2012 |
|
rs79184941
|
|
Pfeiffer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Structural basis for fibroblast growth factor receptor 2 activation in Apert syndrome.
|
11390973 |
2001 |
|
rs79184941
|
|
Pfeiffer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome.
|
9462761 |
1998 |
|
rs79184941
|
|
Pfeiffer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome.
|
8651276 |
1996 |
|
rs79184941
|
|
Pfeiffer Syndrome
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
|
7719344 |
1995 |
|
rs79184941
|
|
Endometrial Carcinoma
|
C |
0.710 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs79184941
|
|
Uterine Carcinosarcoma
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs79184941
|
|
Malignant Uterine Corpus Neoplasm
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs79184941
|
|
Gastric Adenocarcinoma
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.
|
26619011 |
2016 |
|
rs79184941
|
|
Endometrial Neoplasms
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs79184941
|
|
endometrial adenoacanthoma
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
FGFR genetic alterations predict for sensitivity to NVP-BGJ398, a selective pan-FGFR inhibitor.
|
23002168 |
2012 |
|
rs79184941
|
|
endometrial adenoacanthoma
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Ponatinib (AP24534), a multitargeted pan-FGFR inhibitor with activity in multiple FGFR-amplified or mutated cancer models.
|
22238366 |
2012 |
|
rs79184941
|
|
Endometrial Neoplasms
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Targeting mutant fibroblast growth factor receptors in cancer.
|
21367659 |
2011 |