Gene entry
GGCX
gamma-glutamyl carboxylase
- Chromosome
- 2
- Cytoband
- 2p11.2
- Variants (rsID)
- 16
GGCX is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 2 (region 2p11.2). Its official name is “gamma-glutamyl carboxylase”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs12470957Benignsingle nucleotide variantVitamin K-dependent clotting factors, combined deficiency of, type 1
- rs2592551Benignsingle nucleotide variantVitamin K-dependent clotting factors, combined deficiency of, type 1
- rs41290033Benignsingle nucleotide variantVitamin K-dependent clotting factors, combined deficiency of, type 1
- rs699664Benignsingle nucleotide variantVitamin K-dependent clotting factors, combined deficiency of, type 1
- rs61733105Conflicting interpretationssingle nucleotide variantVitamin K-dependent clotting factors, combined deficiency of, type 1
- rs121909681Pathogenicsingle nucleotide variantBody skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- rs121909682Pathogenicsingle nucleotide variantBody skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
- rs121909683Uncertain significancesingle nucleotide variantBody skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency|Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency|Vitamin K-dependent clotting factors, combined deficiency of, type 1
- rs121909684Uncertain significancesingle nucleotide variantBody skin hyperlaxity due to vitamin K-dependent coagulation factor 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.