Variant: rs121918487 

    present in Gene: FGFR2
    present in Chromosome: 10
    Position on Chromosome: 121517378
    Alleles of this Variant: C/A;G;T

rs121918487 in FGFR2 gene and Craniofacial dysostosis type 1 PMID 9152842 1997 A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly.

PMID 17803937 2007 A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

PMID 7874170 1994 Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 9521581 1998 The mutations in FGFR2-associated craniosynostoses are clustered in five structural elements of immunoglobulin-like domain III of the receptor.

PMID 9677057 1998 Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

PMID 7655462 1995 Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

PMID 8644708 1996 FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

PMID 8956050 1996 Crouzon syndrome: previously unrecognized deletion, duplication, and point mutation within FGFR2 gene.

PMID 7581378 1995 Crouzon syndrome: mutations in two spliceoforms of FGFR2 and a common point mutation shared with Jackson-Weiss syndrome.

PMID 8528214 1995 Novel FGFR2 mutations in Crouzon and Jackson-Weiss syndromes show allelic heterogeneity and phenotypic variability.

PMID 11173845 2000 Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

PMID 8946174 1996 Spectrum of craniosynostosis phenotypes associated with novel mutations at the fibroblast growth factor receptor 2 locus.

PMID 11380921 2001 Mutation analysis of Crouzon syndrome and identification of one novel mutation in Taiwanese patients.

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 10851026 2000 To study the effect of craniosynostosis-linked mutations in osteoblasts, we introduced FGFR2 carrying either the C342Y (Crouzon syndrome) or the S252W (Apert syndrome) mutation in OB1 cells.

PMID 10574673 1999 A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance.

rs121918487 in FGFR2 gene and Cutis Gyrata Syndrome of Beare And Stevenson PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 9586546 1998 Mutations in fibroblast growth factor receptor 2 gene and craniosynostotic syndromes in Japanese children.

PMID 8644708 1996 FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

PMID 7655462 1995 Mutations in the third immunoglobulin domain of the fibroblast growth factor receptor-2 gene in Crouzon syndrome.

PMID 25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

PMID 26362256 2015 FGFR2 mutation in 46,XY sex reversal with craniosynostosis.

PMID 12884434 2003 Autistic disorder and chromosomal mosaicism 46,XY[123]/46,XY,del(20)(pter --> p12.2)[10].

PMID 27481450 2016 FGFR-associated craniosynostosis syndromes and gastrointestinal defects.

PMID 9677057 1998 Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.

PMID 12884424 2003 Screening of patients with craniosynostosis: molecular strategy.

rs121918487 in FGFR2 gene and JACKSON-WEISS SYNDROME PMID 25271085 2015 Expanding the mutation spectrum in 182 Spanish probands with craniosynostosis: identification and characterization of novel TCF12 variants.

PMID 7987400 1994 Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome.

PMID 20133659 2010 Analysis of a gain-of-function FGFR2 Crouzon mutation provides evidence of loss of function activity in the etiology of cleft palate.

PMID 8650126 1996 First-trimester prenatal diagnosis of Crouzon syndrome.

PMID 15316116 2004 A gain-of-function mutation of Fgfr2c demonstrates the roles of this receptor variant in osteogenesis.

PMID 24127277 2013 Genotype and clinical care correlations in craniosynostosis: findings from a cohort of 630 Australian and New Zealand patients.

PMID 8755573 1996 Constitutive receptor activation by Crouzon syndrome mutations in fibroblast growth factor receptor (FGFR)2 and FGFR2/Neu chimeras.

PMID 22558232 2012 Receptor tyrosine kinases activate canonical WNT/β-catenin signaling via MAP kinase/LRP6 pathway and direct β-catenin phosphorylation.

rs121918487 in FGFR2 gene and Pfeiffer Syndrome PMID 7719345 1995 Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.

PMID 11173845 2000 Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).

PMID 16844695 2006 Intracellular retention, degradation, and signaling of glycosylation-deficient FGFR2 and craniosynostosis syndrome-associated FGFR2C278F.

PMID 9002682 1997 Genotype-phenotype correlation for nucleotide substitutions in the IgII-IgIII linker of FGFR2.

PMID 17803937 2007 A molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases.

PMID 10945669 2000 Pfeiffer syndrome type 2 associated with a single amino acid deletion in the FGFR2 gene.

PMID 10394936 1999 Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome.

PMID 9719378 1998 Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.

PMID 11781872 2002 Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.

PMID 9693549 1998 Pfeiffer's syndrome resulting from an S351C mutation in the fibroblast growth factor receptor-2 gene.

PMID 8644708 1996 FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.

PMID 9150725 1997 Trp290Cys mutation in exon IIIa of the fibroblast growth factor receptor 2 (FGFR2) gene is associated with Pfeiffer syndrome.

PMID 7719333 1995 FGFR2 mutations in Pfeiffer syndrome.