G12D (p.Gly12Asp) variant of HRAS (GTPase HRas)
G12D (p.Gly12Asp) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Noonan syndrome and Noonan-related syndrome; not provided; RASopathy. The record also includes published literature and structural context.
G12D (p.Gly12Asp) variant details
- p.Gly12Asp
- rs727503094
- ClinGen CA296072
- ClinVar RCV001678586
- Pathogenic
- Noonan syndrome and Noonan-related syndrome; not provided; RASopathy
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CSTLO)
- UniProt: Pathogenic (in CSTLO)
- Structural context available
- Cited in: Severe neonatal manifestations of Costello syndrome. (PMID 18039947)
- Cited in: Prenatal diagnosis of Costello syndrome using 3D ultrasonography amniocentesis confirmation of the rare HRAS mutation… (PMID 18642361)