G456R (p.Gly456Arg) variant of SERPINC1 (Antithrombin-III)
G456R (p.Gly456Arg) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic in the context of Hereditary antithrombin deficiency. The record also includes published literature and structural context.
G456R (p.Gly456Arg) variant details
- p.Gly456Arg
- rs2526542281
- ClinGen CA343772104
- ClinVar RCV002664191
- UniProt VAR 007087
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- EBI: Pathogenic (in AT3D)
- UniProt: Pathogenic (in AT3D)
- Structural context available
- Cited in: Mutations in the shutter region of antithrombin result in formation of disulfide-linked dimers and severe venous… (PMID 15140129)
- Cited in: Antithrombin-Gly 424 Arg: a novel point mutation responsible for type 1 antithrombin deficiency and neonatal thrombosis. (PMID 8274732)