F114S (p.Phe114Ser) variant of GHR (Growth hormone receptor)
F114S (p.Phe114Ser) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Laron-type isolated somatotropin defect. The record also includes published literature and structural context.
F114S (p.Phe114Ser) variant details
- p.Phe114Ser
- rs121909357
- ClinGen CA119790
- ClinVar RCV000009164
- UniProt VAR 002710
- Pathogenic
- Laron-type isolated somatotropin defect
- Missense
- ClinVar: Pathogenic (Laron-type isolated somatotropin defect)
- EBI: Pathogenic (in LARS)
- UniProt: Pathogenic (in LARS)
- Structural context available
- Cited in: Defective membrane expression of human growth hormone (GH) receptor causes Laron-type GH insensitivity syndrome. (PMID 1719554)
- Cited in: Laron dwarfism and mutations of the growth hormone-receptor gene. (PMID 2779634)