W4C (p.Trp4Cys) variant of GHR (Growth hormone receptor)
W4C (p.Trp4Cys) in GHR (Growth hormone receptor) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Laron-type isolated somatotropin defect. The record also includes structural context.
W4C (p.Trp4Cys) variant details
- p.Trp4Cys
- rs1554020272
- ClinGen CA359694400
- ClinVar RCV000582223
- Ensembl rs1554020272
- Uncertain significance
- Laron-type isolated somatotropin defect
- Missense
- ClinVar: Uncertain significance (Laron-type isolated somatotropin defect)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available