T726I (p.Thr726Ile) variant of FGFR1 (P11362)
T726I (p.Thr726Ile) 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.
T726I (p.Thr726Ile) variant details
- p.Thr726Ile
- Ensembl rs2150530455
- Pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- ClinVar: Pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia)
- UniProt: Pathogenic
- Structural context available