M719T (p.Met719Thr) variant of FGFR1 (P11362)
M719T (p.Met719Thr) 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; Jackson-Weiss syndrome. The record also includes structural context.
M719T (p.Met719Thr) variant details
- p.Met719Thr
- cosmic curated COSV58331
- Likely pathogenic
- Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson-Weiss syndrome
- Missense
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 2 with or without anosmia; Jackson)
- EBI: uncertain significance (in HH2)
- UniProt: Uncertain significance (in HH2)
- Structural context available