G125C (p.Gly125Cys) variant of SERPINC1 (Antithrombin-III)
G125C (p.Gly125Cys) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided. The record also includes structural context.
G125C (p.Gly125Cys) variant details
- p.Gly125Cys
- rs2526594015
- ClinGen CA343777312
- ClinVar RCV002284323
- Likely pathogenic
- not provided
- Missense
- ClinVar: Likely pathogenic (not provided)
- EBI: Likely pathogenic (in AT3D)
- UniProt: Likely pathogenic (in AT3D)
- Structural context available