G663E (p.Gly663Glu) variant of FGFR2 (P21802)
G663E (p.Gly663Glu) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related craniosynostosis; Pfeiffer syndrome. The record also includes published literature and structural context.
G663E (p.Gly663Glu) variant details
- p.Gly663Glu
- rs2133825396
- ClinGen CA378313388
- ClinVar RCV003588491
- ClinVar RCV004698884
- Pathogenic
- FGFR2-related craniosynostosis; Pfeiffer syndrome
- Missense
- ClinVar: Pathogenic (FGFR2-related craniosynostosis; Pfeiffer syndrome)
- EBI: Pathogenic (in PS)
- UniProt: Pathogenic (in PS)
- 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: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)