C112F (p.Cys112Phe) variant of GHR (Growth hormone receptor)
C112F (p.Cys112Phe) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of not provided; Laron-type isolated somatotropin defect. The record also includes structural context.
C112F (p.Cys112Phe) variant details
- p.Cys112Phe
- rs121909372
- ClinGen CA359695141
- ClinVar RCV003555189
- ClinVar RCV004813231
- Pathogenic
- not provided; Laron-type isolated somatotropin defect
- Missense
- ClinVar: Pathogenic (not provided; Laron-type isolated somatotropin defect)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available