S48C (p.Ser48Cys) variant of GHR (Growth hormone receptor)
S48C (p.Ser48Cys) in GHR (Growth hormone receptor) is a missense change. The record also includes structural context.
S48C (p.Ser48Cys) variant details
- p.Ser48Cys
- ExAC rs770307280
- TOPMed rs770307280
- gnomAD rs770307280
- Missense
- Structural context available