N549H (p.Asn549His) variant of FGFR2 (P21802)
N549H (p.Asn549His) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of FGFR2-related craniosynostosis; Crouzon syndrome. The record also includes published literature and structural context.
N549H (p.Asn549His) variant details
- p.Asn549His
- rs1057519045
- ClinGen CA16043908
- cosmic curated COSV60640
- ClinVar RCV000415507
- Pathogenic/Likely pathogenic
- FGFR2-related craniosynostosis; Crouzon syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (FGFR2-related craniosynostosis; Crouzon syndrome)
- 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 molecular brake in the kinase hinge region regulates the activity of receptor tyrosine kinases. (PMID 17803937)