G47D (p.Gly47Asp) variant of GNAS (P63092)
G47D (p.Gly47Asp) in GNAS (P63092) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of See cases. The record also includes structural context.
G47D (p.Gly47Asp) variant details
- p.Gly47Asp
- rs2516902294
- ClinGen CA409449536
- ClinVar RCV003886327
- Likely pathogenic
- See cases
- Missense
- ClinVar: Likely pathogenic (See cases)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available