F2124C (p.Phe2124Cys) variant of CHD7 (Q9P2D1)
F2124C (p.Phe2124Cys) in CHD7 (Q9P2D1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Hypogonadotropic hypogonadism 5 with or without anosmia. The record also includes published literature and structural context.
F2124C (p.Phe2124Cys) variant details
- p.Phe2124Cys
- rs2488042663
- ClinVar RCV004586351
- Likely pathogenic
- Hypogonadotropic hypogonadism 5 with or without anosmia
- Missense
- ClinVar: Likely pathogenic (Hypogonadotropic hypogonadism 5 with or without anosmia)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: CHD7 Disorder. (PMID 20301296)
- Cited in: Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency. (PMID 20301509)