F12
coagulation factor XII
Summary
This gene encodes coagulation factor XII which circulates in blood as a zymogen. This single chain zymogen is converted to a two-chain serine protease with an heavy chain (alpha-factor XIIa) and a light chain. The heavy chain contains two fibronectin-type domains, two epidermal growth factor (EGF)-like domains, a kringle domain and a proline-rich domain, whereas the light chain contains only a catalytic domain. On activation, further cleavages takes place in the heavy chain, resulting in the production of beta-factor XIIa light chain and the alpha-factor XIIa light chain becomes beta-factor XIIa heavy chain. Prekallikrein is cleaved by factor XII to form kallikrein, which then cleaves factor XII first to alpha-factor XIIa and then to beta-factor XIIa. The active factor XIIa participates in the initiation of blood coagulation, fibrinolysis, and the generation of bradykinin and angiotensin. It activates coagulation factors VII and XI. Defects in this gene do not cause any clinical symptoms and the sole effect is that whole-blood clotting time is prolonged. [provided by RefSeq, Jul 2008]
Known Variants138 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs777897437 | 5:176,829,207 | G/A | — | uncertain significance |
| rs1763150862 | 5:176,829,284 | C/T | — | uncertain significance |
| rs17876035 | 5:176,829,328 | A/G | — | uncertain significance |
| rs199818421 | 5:176,829,329 | G/A | — | likely benign |
| rs372036789 | 5:176,829,350 | G/T | — | likely benign |
| rs1280601896 | 5:176,829,362 | G/A | — | likely benign |
| rs1198354063 | 5:176,829,367 | C/T | — | uncertain significance |
| rs1157280571 | 5:176,829,373 | A/T | — | pathogenic |
| rs150086036 | 5:176,829,405 | G/A | — | likely benign |
| rs536390950 | 5:176,829,437 | C/T | — | conflicting classifications of pathogenicity |
| rs199988476 | 5:176,829,461 | C/T | splice region variant | pathogenic |
| rs367745133 | 5:176,829,467 | C/T | — | likely benign |
| rs17876034 | 5:176,829,597 | C/T | — | uncertain significance |
| rs752613141 | 5:176,829,610 | A/C | — | uncertain significance |
| rs1424350386 | 5:176,829,632 | T/C | — | uncertain significance |
| rs762403049 | 5:176,829,657 | G/C | — | uncertain significance |
| rs2481036745 | 5:176,829,662 | C/T | — | likely benign |
| rs759021533 | 5:176,829,671 | C/T | — | likely benign |
| rs752701059 | 5:176,829,678 | A/G | — | uncertain significance |
| rs1365677000 | 5:176,829,703 | C/A | — | likely benign |
| rs372398405 | 5:176,830,243 | A/G | — | benign |
| rs1763185944 | 5:176,830,256 | C/G | — | uncertain significance |
| rs760136384 | 5:176,830,268 | G/T | — | likely benign |
| rs2481038125 | 5:176,830,294 | T/C | — | uncertain significance |
| rs113304533 | 5:176,830,301 | G/C | — | likely benign |
| rs1332851198 | 5:176,830,312 | C/T | — | uncertain significance |
| rs749774889 | 5:176,830,324 | G/A | — | uncertain significance |
| rs2481038229 | 5:176,830,326 | A/G | — | uncertain significance |
| rs145585290 | 5:176,830,349 | C/A | — | likely benign |
| rs200417568 | 5:176,830,358 | C/T | — | likely benign |
| rs2481038357 | 5:176,830,368 | C/T | — | uncertain significance |
| rs79281364 | 5:176,830,433 | G/A | — | benign |
| rs761161412 | 5:176,830,478 | G/C | — | conflicting classifications of pathogenicity |
| rs772974790 | 5:176,830,515 | C/T | — | uncertain significance |
| rs1483262492 | 5:176,830,526 | C/T | — | uncertain significance |
| rs376398393 | 5:176,830,540 | G/A | — | likely benign |
| rs367761158 | 5:176,830,555 | C/T | — | likely benign |
| rs1763199851 | 5:176,830,613 | G/A | — | uncertain significance |
| rs17876032 | 5:176,830,627 | A/G | — | conflicting classifications of pathogenicity |
| rs747726864 | 5:176,830,630 | G/T | — | uncertain significance |
| rs41309760 | 5:176,830,741 | G/A | — | — |
| rs2481039442 | 5:176,830,884 | G/A | — | uncertain significance |
| rs756802257 | 5:176,830,898 | G/C | — | uncertain significance |
| rs1763214147 | 5:176,830,968 | C/T | — | uncertain significance |
| rs759948258 | 5:176,830,985 | G/C | — | likely benign |
| rs118204454 | 5:176,830,995 | C/G | missense variant | pathogenic |
| rs141473119 | 5:176,831,003 | C/G | — | conflicting classifications of pathogenicity |
| rs1328103815 | 5:176,831,009 | C/G | — | likely benign |
| rs749889059 | 5:176,831,031 | C/A | — | uncertain significance |
| rs1206904795 | 5:176,831,037 | C/A | — | uncertain significance |
| rs1763217158 | 5:176,831,046 | C/A | — | uncertain significance |
| rs1189489583 | 5:176,831,065 | G/A | — | uncertain significance |
| rs183643295 | 5:176,831,083 | C/G | missense variant | likely benign |
| rs2230939 | 5:176,831,085 | G/A | — | conflicting classifications of pathogenicity |
| rs17876031 | 5:176,831,119 | G/A | — | benign |
| rs779057710 | 5:176,831,183 | C/A | — | conflicting classifications of pathogenicity |
| rs552424629 | 5:176,831,184 | C/G | — | conflicting classifications of pathogenicity |
| rs758462343 | 5:176,831,185 | C/G | — | conflicting classifications of pathogenicity |
| rs570973405 | 5:176,831,186 | C/A | — | conflicting classifications of pathogenicity |
| rs770164366 | 5:176,831,194 | A/G | — | uncertain significance |
| rs1230433689 | 5:176,831,202 | G/A | — | uncertain significance |
| rs118204456 | 5:176,831,232 | G/T | missense variant | pathogenic |
| rs1763225226 | 5:176,831,258 | C/G | — | uncertain significance |
| rs556795861 | 5:176,831,263 | C/G | — | likely benign |
| rs77098327 | 5:176,831,285 | C/G | — | likely benign |
| rs749549919 | 5:176,831,287 | T/A | — | uncertain significance |
| rs1763226695 | 5:176,831,290 | G/A | — | uncertain significance |
| rs139263608 | 5:176,831,292 | G/T | — | conflicting classifications of pathogenicity |
| rs78187030 | 5:176,831,293 | A/T | — | likely benign |
| rs1446112023 | 5:176,831,339 | C/T | — | likely benign |
| rs1222823597 | 5:176,831,373 | T/C | — | uncertain significance |
| rs2481040890 | 5:176,831,379 | A/G | — | uncertain significance |
| rs199917514 | 5:176,831,492 | C/T | — | benign |
| rs202071046 | 5:176,831,499 | C/T | — | likely pathogenic |
| rs1257900287 | 5:176,831,541 | C/T | — | likely benign |
| rs61743702 | 5:176,831,543 | C/G | — | conflicting classifications of pathogenicity |
| rs41309752 | 5:176,831,544 | G/A | — | benign |
| rs1429841456 | 5:176,831,580 | C/T | — | uncertain significance |
| rs17876047 | 5:176,831,589 | G/A | — | likely benign |
| rs886060471 | 5:176,831,815 | G/A | — | uncertain significance |
| rs17876030 | 5:176,831,826 | C/G | missense variant | benign |
| rs2481042401 | 5:176,831,859 | G/A | — | uncertain significance |
| rs1763248340 | 5:176,831,868 | C/A | — | pathogenic |
| rs144821595 | 5:176,831,915 | G/A | — | benign |
| rs17876029 | 5:176,831,980 | T/C | — | benign |
| rs6556320 | 5:176,832,032 | C/T | — | benign |
| rs536792519 | 5:176,832,109 | C/T | — | uncertain significance |
| rs764800976 | 5:176,832,159 | C/T | — | uncertain significance |
| rs35515200 | 5:176,832,166 | G/C | missense variant | pathogenic |
| rs2481043070 | 5:176,832,169 | G/A | — | likely pathogenic |
| rs56285942 | 5:176,832,198 | G/A | — | likely benign |
| rs1235530809 | 5:176,832,200 | G/A | — | likely benign |
| rs778949627 | 5:176,832,352 | T/C | — | uncertain significance |
| rs41309750 | 5:176,832,362 | A/T | — | uncertain significance |
| rs140243617 | 5:176,832,373 | G/T | — | conflicting classifications of pathogenicity |
| rs754877167 | 5:176,832,375 | C/T | — | uncertain significance |
| rs769220140 | 5:176,832,376 | G/A | — | likely benign |
| rs778724407 | 5:176,832,381 | G/C | — | uncertain significance |
| rs201422427 | 5:176,832,390 | C/G | — | uncertain significance |
| rs529435077 | 5:176,832,425 | C/G | — | uncertain significance |
Showing 100 of 138 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.