G337R (p.Gly337Arg) variant of FGFR1 (P11362)
G337R (p.Gly337Arg) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar and UniProt describe it as uncertain significance in the context of Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia. The record also includes structural context.
G337R (p.Gly337Arg) variant details
- p.Gly337Arg
- Ensembl rs2150755633
- Uncertain significance
- Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- ClinVar: Uncertain significance (Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or witho)
- UniProt: Uncertain significance
- Structural context available