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: 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