G382D (p.Gly382Asp) variant of FGFR3 (P22607)
G382D (p.Gly382Asp) in FGFR3 (P22607) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hypochondroplasia. The record also includes structural context.
G382D (p.Gly382Asp) variant details
- p.Gly382Asp
- cosmic curated COSV53427
- ExAC rs750161905
- Likely pathogenic
- Hypochondroplasia
- Missense
- ClinVar: Likely pathogenic (Hypochondroplasia)
- UniProt: Likely pathogenic
- Structural context available