G12A (p.Gly12Ala) variant of HRAS (GTPase HRas)
G12A (p.Gly12Ala) in HRAS (GTPase HRas) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Epidermal nevus; Linear nevus sebaceous syndrome; Large congenital melanocytic n. The record also includes published literature and structural context.
G12A (p.Gly12Ala) variant details
- p.Gly12Ala
- rs727503094
- ClinGen CA296077
- ClinVar RCV000157929
- Pathogenic
- Epidermal nevus; Linear nevus sebaceous syndrome; Large congenital melanocytic n
- Missense
- ClinVar: Pathogenic (not provided)
- EBI: Pathogenic (in CSTLO)
- UniProt: Pathogenic (in CSTLO)
- Structural context available
- Cited in: Germline mutations in HRAS proto-oncogene cause Costello syndrome. (PMID 16170316)
- Cited in: HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation. (PMID 16329078)