G52C (p.Gly52Cys) variant of GNAS (P63092)
G52C (p.Gly52Cys) in GNAS (P63092) is a missense change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes structural context.
G52C (p.Gly52Cys) variant details
- p.Gly52Cys
- Ensembl rs2146005656
- Likely pathogenic
- Missense
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available