G12E (p.Gly12Glu) variant of HRAS (GTPase HRas)
G12E (p.Gly12Glu) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of not provided; Costello syndrome. The record also includes published literature and structural context.
G12E (p.Gly12Glu) variant details
- p.Gly12Glu
- rs727503094
- ClinGen CA273158
- ClinVar RCV000150836
- ClinVar RCV000255809
- Pathogenic/Likely pathogenic
- not provided; Costello syndrome
- Missense
- ClinVar: Pathogenic/Likely pathogenic (not provided; Costello syndrome)
- EBI: Pathogenic (in CSTLO)
- UniProt: Pathogenic (in CSTLO)
- Structural context available
- Cited in: Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases. (PMID 16443854)
- Cited in: HRAS-Related Costello Syndrome. (PMID 20301680)