A604D (p.Ala604Asp) variant of FGFR1 (P11362)
A604D (p.Ala604Asp) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Hypogonadotropic hypogonadism 2 with or without anosmia. The record also includes structural context.
A604D (p.Ala604Asp) variant details
- p.Ala604Asp
- Ensembl rs2150583697
- Pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- ClinVar: Pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- UniProt: Pathogenic
- Structural context available