T130I (p.Thr130Ile) variant of SERPINC1 (Antithrombin-III)
T130I (p.Thr130Ile) in SERPINC1 (Antithrombin-III) is a missense change. Clinical records from ClinVar and UniProt describe it as pathogenic in the context of Hereditary antithrombin deficiency. The record also includes structural context.
T130I (p.Thr130Ile) variant details
- p.Thr130Ile
- Ensembl rs1657907675
- Pathogenic
- Hereditary antithrombin deficiency
- Missense
- ClinVar: Pathogenic (Hereditary antithrombin deficiency)
- UniProt: Pathogenic
- Structural context available