FGFR3, fibroblast growth factor receptor 3, 2261

N. diseases: 654; N. variants: 55
Disease: Skeletal dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913482
rs121913482
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410528
Disease:
Skeletal dysplasia 		0.710 GeneticVariation BEFREE In this communication, we report the identification of a mosaic R248C missense mutation in the IgII-III linker region of the gene encoding the fibroblast growth factor receptor-3 (FGFR3), in an individual who manifests a skeletal dysplasia and epidermal hyperplasia. 12833394 2003
dbSNP: rs121913482
rs121913482
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410528
Disease:
Skeletal dysplasia 		T 0.710 CausalMutation CLINVAR
dbSNP: rs886043613
rs886043613
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410528
Disease:
Skeletal dysplasia 		T 0.700 CausalMutation CLINVAR
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410528
Disease:
Skeletal dysplasia 		0.020 GeneticVariation BEFREE Protein-losing enteropathy with intestinal lymphangiectasia in skeletal dysplasia with Lys650Met mutation. 27214123 2016
dbSNP: rs121913105
rs121913105
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410528
Disease:
Skeletal dysplasia 		0.020 GeneticVariation BEFREE FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met. 25119967 2015
dbSNP: rs78311289
rs78311289
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410528
Disease:
Skeletal dysplasia 		0.010 GeneticVariation BEFREE One tumour contained K652Q which has recently been identified in less severe cases of skeletal dysplasia. 11314002 2001
dbSNP: rs28933068
rs28933068
Entrez Id: 2261
Gene Symbol: FGFR3
FGFR3
CUI: C0410528
Disease:
Skeletal dysplasia 		0.010 GeneticVariation BEFREE Other mutations within the FGFR3 tyrosine kinase domain (e.g., C1620A or C1620G [both resulting in Asn540Lys]) are known to cause hypochondroplasia, a relatively common but milder skeletal dysplasia. 11055896 2000