G12V (p.Gly12Val) variant of HRAS (GTPase HRas)
G12V (p.Gly12Val) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Costello syndrome; not provided. The record also includes published literature and structural context.
G12V (p.Gly12Val) variant details
- p.Gly12Val
- rs727503094
- ClinGen CA10603217
- ClinVar RCV000322736
- ClinGen CA658795203
- Pathogenic
- Costello syndrome; not provided
- Missense
- ClinVar: Pathogenic (Costello syndrome; not provided)
- EBI: Pathogenic (in CSTLO, bladder carcinoma and CMEMS)
- UniProt: Pathogenic (in CSTLO, bladder carcinoma and CMEMS)
- Structural context available
- Cited in: Germline mutations in HRAS proto-oncogene cause Costello syndrome. (PMID 16170316)
- Cited in: Myopathy caused by HRAS germline mutations: implications for disturbed myogenic differentiation in the presence of… (PMID 17412879)