C6F (p.Cys6Phe) variant of FGFR1 (P11362)
C6F (p.Cys6Phe) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, 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.
C6F (p.Cys6Phe) variant details
- p.Cys6Phe
- Ensembl rs2151346848
- Uncertain significance
- Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- ClinVar: Uncertain significance (Pfeiffer syndrome; Hypogonadotropic hypogonadism 2 with or witho)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available