V173G (p.Val173Gly) variant of GHR (Growth hormone receptor)
V173G (p.Val173Gly) 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.
V173G (p.Val173Gly) variant details
- p.Val173Gly
- rs121909369
- ClinGen CA119807
- ClinVar RCV000009180
- UniProt VAR 018433
- 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: Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding… (PMID 9851797)
- Cited in: Characterisation of novel missense mutations in the GH receptor gene causing severe growth retardation. (PMID 10870033)