N262H (p.Asn262His) variant of FGFR3 (P22607)
N262H (p.Asn262His) 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.
N262H (p.Asn262His) variant details
- p.Asn262His
- Ensembl rs2108783702
- Likely pathogenic
- Hypochondroplasia
- Missense
- ClinVar: Likely pathogenic (Hypochondroplasia)
- UniProt: Likely pathogenic
- Structural context available