Gene: FGFR3 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913105
rs121913105
FGFR3
0.730 GeneticVariation BEFREE Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]). 11055896

2000
dbSNP: rs587779383
rs587779383
FGFR3
0.010 GeneticVariation BEFREE Two missense mutations in this codon are known to result in strong constitutive activation of the FGFR3 tyrosine kinase and cause three different skeletal dysplasia syndromes-thanatophoric dysplasia type II (TD2) (A1948G [Lys650Glu]) and SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) syndrome and thanatophoric dysplasia type I (TD1) (both due to A1949T [Lys650Met]). 11055896

2000
dbSNP: rs78311289
rs78311289
FGFR3
0.890 GeneticVariation UNIPROT FGF receptors ubiquitylation: dependence on tyrosine kinase activity and role in downregulation. 12297284

2002
dbSNP: rs78311289
rs78311289
FGFR3
0.890 GeneticVariation BEFREE The K650E substitution in the fibroblast growth factor receptor 3 (FGFR3) causes constitutive tyrosine kinase activity of the receptor and is associated to the lethal skeletal disorder, thanatophoric dysplasia type II (TDII). 12624096

2003
dbSNP: rs121913116
rs121913116
FGFR3
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
dbSNP: rs78311289
rs78311289
FGFR3
0.890 GeneticVariation BEFREE Using a mouse model of thanatophoric dysplasia type II in which FGFR3(K650E) expression was directed to the appendicular skeleton, we show that the mutant receptor caused a block in chondrocyte differentiation specifically at the prehypertrophic stage. 22843502

2012
dbSNP: rs78311289
rs78311289
FGFR3
0.890 GeneticVariation BEFREE The K650E gain-of-function mutation in the tyrosine kinase domain of FGF receptor 3 (FGFR3) causes Thanatophoric Dysplasia type II, a neonatal lethal congenital dwarfism syndrome, and when acquired somatically, it contributes to carcinogenesis. 23972473

2013
dbSNP: rs78311289
rs78311289
FGFR3
0.890 GeneticVariation BEFREE Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II. 24075385

2013
dbSNP: rs121913105
rs121913105
FGFR3
0.730 GeneticVariation BEFREE K650M/E substitutions in the Fibroblast growth factor receptor 3 (FGFR3) are associated with Severe Achondroplasia with Developmental Delay and Acanthosis Nigricans (SADDAN) and Thanatophoric Dysplasia type II (TDII), respectively. 29242050

2018
dbSNP: rs78311289
rs78311289
FGFR3
0.890 GeneticVariation BEFREE The result was consistent with a K650E mutation in FGFR3 and TD2. 29458880

2018