C112S (p.Cys112Ser) variant of GHR (Growth hormone receptor)
C112S (p.Cys112Ser) 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.
C112S (p.Cys112Ser) variant details
- p.Cys112Ser
- rs121909372
- ClinGen CA119817
- ClinVar RCV000009194
- Ensembl rs121909372
- Pathogenic
- Laron-type isolated somatotropin defect
- Missense
- ClinVar: Pathogenic (Laron-type isolated somatotropin defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Primary growth hormone (GH) insensitivity and insulin-like growth factor deficiency caused by novel compound… (PMID 17405847)