C342G (p.Cys342Gly) variant of FGFR2 (P21802)
C342G (p.Cys342Gly) in FGFR2 (P21802) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of FGFR2-related syndromic and non-syndromic craniosynostoses; FGFR2-related cranio. The record also includes published literature and structural context.
C342G (p.Cys342Gly) variant details
- p.Cys342Gly
- rs2540049261
- ClinGen CA2580082429
- ClinVar RCV003048177
- Pathogenic
- FGFR2-related syndromic and non-syndromic craniosynostoses; FGFR2-related cranio
- Missense
- ClinVar: Pathogenic (FGFR2-related craniosynostosis)
- EBI: Pathogenic (in PS)
- UniProt: Pathogenic (in PS)
- Structural context available
- Cited in: Analysis of the mutational spectrum of the FGFR2 gene in Pfeiffer syndrome. (PMID 10394936)
- Cited in: FGFR Craniosynostosis Syndromes Overview. (PMID 20301628)