Gene entry
SERPINC1
serpin family C member 1
- Chromosome
- 1
- Cytoband
- 1q25.1
- Variants (rsID)
- 12
SERPINC1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q25.1). Its official name is “serpin family C member 1”. The reference table lists 12 variants (rsID) for this gene.
Clinically classified variants
10 reference-table entries with clinical significance.
- rs2227627Benignsingle nucleotide variantHereditary antithrombin deficiency
- rs121909563Conflicting interpretationssingle nucleotide variantHereditary antithrombin deficiency
- rs2227624Conflicting interpretationssingle nucleotide variantHereditary antithrombin deficiency|Thromboembolism|Deep venous thrombosis
- rs28929469Likely pathogenicsingle nucleotide variantHereditary antithrombin deficiency
- rs121909548Pathogenicsingle nucleotide variantHereditary antithrombin deficiency
- rs121909551Pathogenicsingle nucleotide variantHereditary antithrombin deficiency
- rs121909554Pathogenicsingle nucleotide variantHereditary antithrombin deficiency
- rs121909567Pathogenicsingle nucleotide variantHereditary antithrombin deficiency|Deep venous thrombosis
- rs121909569Pathogenicsingle nucleotide variantHereditary antithrombin deficiency
- rs121909568Uncertain significancesingle nucleotide variantHereditary antithrombin deficiency
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.
