G481V (p.Gly481Val) variant of FGFR1 (P11362)
G481V (p.Gly481Val) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of Hartsfield-Bixler-Demyer syndrome. The record also includes structural context.
G481V (p.Gly481Val) variant details
- p.Gly481Val
- Ensembl rs2150658120
- Likely pathogenic
- Hartsfield-Bixler-Demyer syndrome
- Missense
- ClinVar: Likely pathogenic (Hartsfield-Bixler-Demyer syndrome)
- UniProt: Likely pathogenic
- Structural context available