FGFR3

fibroblast growth factor receptor 3

Summary

This gene encodes a member of the fibroblast growth factor receptor (FGFR) family, with its amino acid sequence being highly conserved between members and among divergent species. FGFR family members differ from one another in their ligand affinities and tissue distribution. A full-length representative protein would consist of an extracellular region, composed of three immunoglobulin-like domains, a single hydrophobic membrane-spanning segment and a cytoplasmic tyrosine kinase domain. The extracellular portion of the protein interacts with fibroblast growth factors, setting in motion a cascade of downstream signals, ultimately influencing mitogenesis and differentiation. This particular family member binds acidic and basic fibroblast growth hormone and plays a role in bone development and maintenance. Mutations in this gene lead to craniosynostosis and multiple types of skeletal dysplasia. [provided by RefSeq, Aug 2017]

Known Variants816 total

rsidPosition (GRCh37)AllelesClassClinVar
rs44509964:1,795,321C/A—benign
rs178791994:1,795,333C/T—benign
rs5655256934:1,795,379G/A—likely benign
rs10350348264:1,795,551C/T—likely benign
rs100233404:1,795,557T/C—benign
rs15603841064:1,795,664G/T—uncertain significance
rs7495278284:1,795,667C/T—likely benign
rs12593854664:1,795,668G/A—uncertain significance
rs7711339294:1,795,674G/C—uncertain significance
rs25467753554:1,795,675C/T—uncertain significance
rs13670489574:1,795,676C/A—likely benign
rs21087518464:1,795,678G/A—uncertain significance
rs7791957904:1,795,682C/T—likely benign
rs9189342264:1,795,689C/T—uncertain significance
rs5568801694:1,795,691C/T—likely benign
rs17201523914:1,795,700C/G—likely benign
rs10488570454:1,795,701G/A—uncertain significance
rs5738506314:1,795,704G/T—uncertain significance
rs9089923234:1,795,713G/A—uncertain significance
rs5877783514:1,795,723C/A—not provided
rs25467757284:1,795,726C/T—uncertain significance
rs9414912184:1,795,727G/C—likely benign
rs15772537144:1,795,728G/C—uncertain significance
rs7762595754:1,795,730G/A—likely benign
rs5425728734:1,795,733C/T—likely benign
rs7624021804:1,795,736G/A—likely benign
rs12218766884:1,795,738G/A—uncertain significance
rs7680213694:1,795,743G/A—uncertain significance
rs14908121614:1,795,745G/A—likely benign
rs5532656654:1,795,748G/C—likely benign
rs7564370644:1,795,750G/A—uncertain significance
rs15538422134:1,795,770G/A—uncertain significance
rs17201666844:1,795,780G/C—likely benign
rs9306508474:1,795,782C/T—likely benign
rs178842824:1,795,796G/A—likely benign
rs178840054:1,795,944T/C—benign
rs31358334:1,796,067C/A—likely benign
rs31358344:1,796,079C/T—benign
rs5614628254:1,796,354G/C——
rs31358424:1,796,636G/Cregulatory region variant—
rs31358464:1,797,484C/Gregulatory region variant—
rs31358484:1,797,741T/Cregulatory region variant—
rs1493210124:1,800,763C/T—likely benign
rs46479274:1,800,914C/T—benign
rs10059231454:1,800,964G/C—likely benign
rs13160130464:1,800,968A/G—likely benign
rs7695916174:1,800,987C/T—uncertain significance
rs3762232994:1,800,988G/A—likely benign
rs1460801194:1,801,001G/A—likely benign
rs7593255764:1,801,016T/C—likely benign
rs25467949844:1,801,018G/A—likely benign
rs7506419284:1,801,021C/T—conflicting classifications of pathogenicity
rs1400876764:1,801,025G/A—likely benign
rs2014339844:1,801,029G/C—uncertain significance
rs1435488934:1,801,030C/A—uncertain significance
rs3709400114:1,801,031G/A—uncertain significance
rs11902923154:1,801,033G/A—likely benign
rs617350644:1,801,040G/A—likely benign
rs3745610014:1,801,043G/A—uncertain significance
rs9273104524:1,801,050G/C—uncertain significance
rs3687899154:1,801,051C/T—likely benign
rs5338660314:1,801,055C/T—uncertain significance
rs3717298024:1,801,059C/G—conflicting classifications of pathogenicity
rs1403777604:1,801,060G/A—likely benign
rs7664624094:1,801,063C/T—likely benign
rs23051784:1,801,064G/A—likely benign
rs25467953094:1,801,065G/T—uncertain significance
rs3692329224:1,801,071G/A—conflicting classifications of pathogenicity
rs7526210564:1,801,072T/C—likely benign
rs3738189584:1,801,076A/G—uncertain significance
rs25467955724:1,801,098A/G—uncertain significance
rs1219131164:1,801,122C/Tmissense variantpathogenic
rs3679734614:1,801,123G/A—conflicting classifications of pathogenicity
rs21087732454:1,801,127C/T—uncertain significance
rs21087732774:1,801,137T/C—uncertain significance
rs7797575404:1,801,141G/T—likely benign
rs1449952314:1,801,143C/T—conflicting classifications of pathogenicity
rs25467957794:1,801,144C/T—likely benign
rs1999684004:1,801,148C/T—uncertain significance
rs7713333574:1,801,149G/A—uncertain significance
rs25467958254:1,801,150G/A—likely benign
rs12997400564:1,801,151C/T—likely benign
rs14363809664:1,801,153G/A—likely benign
rs5877783524:1,801,170C/G—not provided
rs3717154444:1,801,174C/T—likely benign
rs5589351094:1,801,175G/A—likely benign
rs3770186544:1,801,183C/T—likely benign
rs13942805344:1,801,184G/A—uncertain significance
rs3696340494:1,801,187G/A—likely benign
rs13139283754:1,801,195C/T—likely benign
rs9788566654:1,801,199C/T—uncertain significance
rs5569163704:1,801,200G/A—likely benign
rs13472460534:1,801,201G/T—likely benign
rs7581631284:1,801,206G/A—conflicting classifications of pathogenicity
rs25467962644:1,801,211A/C—uncertain significance
rs7798823184:1,801,212C/T—uncertain significance
rs9172541074:1,801,213G/A—likely benign
rs7464687964:1,801,214C/G—uncertain significance
rs5877787694:1,801,215A/Gmissense variant—
rs8860427754:1,801,217C/T—uncertain significance

Showing 100 of 816 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.