S269C (p.Ser269Cys) variant of FGFR3 (P22607)
S269C (p.Ser269Cys) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypochondroplasia. The record also includes structural context.
S269C (p.Ser269Cys) variant details
- p.Ser269Cys
- TOPMed rs1241508464
- Likely pathogenic
- Hypochondroplasia
- Missense
- ClinVar: Likely pathogenic (Hypochondroplasia)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available