P741S (p.Pro741Ser) variant of FGFR1 (P11362)
P741S (p.Pro741Ser) in FGFR1 (P11362) is a missense change. Clinical records from ClinVar and UniProt describe it as likely pathogenic in the context of FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or without anosmia. The record also includes structural context.
P741S (p.Pro741Ser) variant details
- p.Pro741Ser
- Ensembl rs2150522381
- Likely pathogenic
- FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or without anosmia
- Missense
- ClinVar: Likely pathogenic (FGFR1-related disorder; Hypogonadotropic hypogonadism 2 with or)
- UniProt: Likely pathogenic
- Structural context available