R678G (p.Arg678Gly) variant of FGFR2 (P21802)
R678G (p.Arg678Gly) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; FGFR2-related craniosynostosis. The record also includes published literature and structural context.
R678G (p.Arg678Gly) variant details
- p.Arg678Gly
- rs1845559552
- ClinGen CA378313172
- NCI-TCGA Cosmic COSV6063
- cosmic curated COSV60639
- Pathogenic/Likely pathogenic
- not provided; FGFR2-related craniosynostosis
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; FGFR2-related craniosynostosis)
- EBI: Pathogenic (in CS)
- UniProt: Pathogenic (in CS)
- Structural context available
- Cited in: Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with… (PMID 11781872)
- Cited in: A novel FGFR2 gene mutation in Crouzon syndrome associated with apparent nonpenetrance. (PMID 10574673)