SERPINC1 Chromosome 1
Serpin family C member 1
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What This Gene Does
The protein encoded by this gene, antithrombin III, is a plasma protease inhibitor and a member of the serpin superfamily. This protein inhibits thrombin as well as other activated serine proteases of the coagulation system, and it regulates the blood coagulation cascade. The protein includes two functional domains: the heparin binding-domain at the N-terminus of the mature protein, and the reactive site domain at the C-terminus. The inhibitory activity is enhanced by the presence of heparin. Numerous mutations have been identified for this gene, many of which are known to cause antithrombin-III deficiency which constitutes a strong risk factor for thrombosis. A reduction in the serum level of this protein is associated with severe cases of Coronavirus Disease 19 (COVID-19). [provided by RefSeq, Sep 2020]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
1q25.1
Ensembl
ENSG00000117601
Associated Conditions (11)
Hereditary antithrombin deficiency
Thrombocytopenia
Abnormal bleeding
Inborn genetic diseases
Hepatocellular carcinoma
SERPINC1-related disorder
Tuberous sclerosis 2
Deep venous thrombosis
Abnormal thrombosis
Thromboembolism
Coloboma of optic nerve
Key Variants
RS121909548
Conflicting classifications of pathogenicity
Hereditary antithrombin deficiency, Hereditary antithrombin deficiency, Thrombocytopenia
Health Risk
RS144084678
Conflicting classifications of pathogenicity
Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
Health Risk
RS201656611
Conflicting classifications of pathogenicity
Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
Health Risk
RS758087836
Conflicting classifications of pathogenicity
Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
Health Risk
RS886045594
Conflicting classifications of pathogenicity
Hereditary antithrombin deficiency, Inborn genetic diseases, Hereditary antithrombin deficiency
Health Risk
RS1131691435
Likely pathogenic
Health Risk
RS121909546
Likely pathogenic
Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
Health Risk
RS121909547
Likely pathogenic
Hereditary antithrombin deficiency, Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
Health Risk
RS121909550
Likely pathogenic
Hereditary antithrombin deficiency, Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
Health Risk
RS121909555
Likely pathogenic
Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
Health Risk
RS121909557
Likely pathogenic
Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
Health Risk
RS121909558
Likely pathogenic
Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
Health Risk
All Variants (118)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS2526582621 | Health Risk | Pathogenic | Hereditary antithrombin deficiency, Coloboma of optic nerve, Hereditary antithrombin deficiency |
| RS2526594003 | Health Risk | Pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS2526594458 | Health Risk | Pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS2526594781 | Health Risk | Pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS2526595268 | Health Risk | Pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS2526595697 | Health Risk | Pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS2526596951 | Health Risk | Pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS2526612854 | Health Risk | Pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS387906575 | Health Risk | Pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS483352856 | Health Risk | Pathogenic | Tuberous sclerosis 2, Hereditary antithrombin deficiency, Tuberous sclerosis 2 |
| RS542881762 | Health Risk | Pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS863224495 | Health Risk | Pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS1657743081 | Health Risk | Pathogenic/Likely pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS199469504 | Health Risk | Pathogenic/Likely pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS2526594866 | Health Risk | Pathogenic/Likely pathogenic | SERPINC1-related disorder, SERPINC1-related disorder |
| RS28929469 | Health Risk | Pathogenic/Likely pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS768704768 | Health Risk | Pathogenic/Likely pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |
| RS786204063 | Health Risk | Pathogenic/Likely pathogenic | Hereditary antithrombin deficiency, Hereditary antithrombin deficiency |