Y228D (p.Tyr228Asp) variant of FGFR1 (P11362)
Y228D (p.Tyr228Asp) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypogonadotropic hypogonadism 2 with or without anosmia. The record also includes published literature and structural context.
Y228D (p.Tyr228Asp) variant details
- p.Tyr228Asp
- UniProt VAR 069289
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- EBI: Pathogenic (in HH2)
- UniProt: Pathogenic (in HH2)
- Structural context available
- Cited in: Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. (PMID 19820032)
- Cited in: Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic… (PMID 23643382)