FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Familial (FPAH) ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs4647924
rs4647924
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE Taken together, these results indicate that the P250R FGFR3 mutation is mostly familial and is associated with a more severe phenotype in females than in males. 9950359 1999
dbSNP: rs28931614
rs28931614
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C1611743
Disease:
Familial (FPAH) 		0.010 GeneticVariation BEFREE We report here recurrent missense mutations, in a CpG doublet of the transmembrane domain of the FGFR3 protein (G380R) in 17 sporadic cases and 6 unrelated familial forms of ACH and show that the mutant genotype segregates with the disease in these families. 8742128 1996