FGB
fibrinogen beta chain
Summary
The protein encoded by this gene is the beta component of fibrinogen, a blood-borne glycoprotein comprised of three pairs of nonidentical polypeptide chains. Following vascular injury, fibrinogen is cleaved by thrombin to form fibrin which is the most abundant component of blood clots. In addition, various cleavage products of fibrinogen and fibrin regulate cell adhesion and spreading, display vasoconstrictor and chemotactic activities, and are mitogens for several cell types. Fibrinogen serves key roles in hemostasis and antimicrobial host defense. Mutations in this gene lead to several disorders, including afibrinogenemia, dysfibrinogenemia, hypodysfibrinogenemia and thrombotic tendency. [provided by RefSeq, Aug 2020]
Known Variants178 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1800789 | 4:155,482,743 | G/A | upstream gene variant | — |
| rs2227389 | 4:155,483,170 | C/T | regulatory region variant | — |
| rs1800790 | 4:155,483,708 | G/A | upstream gene variant | benign |
| rs1800788 | 4:155,483,914 | C/T | upstream gene variant | benign |
| rs1800787 | 4:155,484,015 | C/T | upstream gene variant | benign |
| rs6053 | 4:155,484,174 | A/G | — | uncertain significance |
| rs767891657 | 4:155,484,180 | A/T | — | uncertain significance |
| rs1345315728 | 4:155,484,186 | T/C | — | uncertain significance |
| rs1368231341 | 4:155,484,237 | T/C | — | likely benign |
| rs1442627097 | 4:155,484,250 | T/C | — | uncertain significance |
| rs375340782 | 4:155,484,254 | T/A | — | likely benign |
| rs2530757532 | 4:155,484,262 | A/G | — | uncertain significance |
| rs2530757606 | 4:155,484,270 | A/G | — | likely benign |
| rs747783086 | 4:155,484,273 | G/A | — | uncertain significance |
| rs1339535578 | 4:155,484,284 | G/C | — | uncertain significance |
| rs2227395 | 4:155,484,511 | G/A | — | benign |
| rs2227399 | 4:155,485,853 | T/G | intron variant | — |
| rs2227401 | 4:155,486,381 | C/T | — | benign |
| rs2227402 | 4:155,486,470 | T/A | — | benign |
| rs2227403 | 4:155,486,646 | T/C | — | benign |
| rs755763520 | 4:155,486,943 | T/C | — | likely benign |
| rs187641148 | 4:155,486,948 | C/T | — | conflicting classifications of pathogenicity |
| rs773855571 | 4:155,486,970 | G/C | — | uncertain significance |
| rs121909616 | 4:155,486,975 | C/T | missense variant | pathogenic |
| rs121909618 | 4:155,486,978 | G/T | missense variant | other |
| rs121909625 | 4:155,486,984 | C/T | stop gained | pathogenic |
| rs775891227 | 4:155,486,985 | G/A | — | uncertain significance |
| rs971404907 | 4:155,487,014 | C/T | — | uncertain significance |
| rs141013999 | 4:155,487,036 | C/T | — | uncertain significance |
| rs371842822 | 4:155,487,045 | G/C | — | conflicting classifications of pathogenicity |
| rs933834957 | 4:155,487,055 | C/T | — | uncertain significance |
| rs553042170 | 4:155,487,061 | G/A | — | likely benign |
| rs121909619 | 4:155,487,065 | C/T | missense variant | other |
| rs1219609042 | 4:155,487,089 | C/A | — | uncertain significance |
| rs886059141 | 4:155,487,096 | A/C | — | uncertain significance |
| rs775809959 | 4:155,487,099 | T/C | — | uncertain significance |
| rs2110761933 | 4:155,487,129 | G/A | — | uncertain significance |
| rs6060 | 4:155,487,136 | C/T | — | benign |
| rs121909620 | 4:155,487,137 | G/A | missense variant | other |
| rs2227434 | 4:155,487,143 | C/T | — | conflicting classifications of pathogenicity |
| rs377566007 | 4:155,487,161 | C/G | — | likely benign |
| rs758050082 | 4:155,487,165 | T/C | — | likely benign |
| rs779618187 | 4:155,487,167 | T/A | — | benign |
| rs2042642 | 4:155,487,221 | G/C | — | benign |
| rs757471901 | 4:155,487,625 | T/C | — | likely benign |
| rs6055 | 4:155,487,652 | T/C | — | benign |
| rs758080375 | 4:155,487,666 | A/G | — | uncertain significance |
| rs148045912 | 4:155,487,701 | A/G | — | likely benign |
| rs770246669 | 4:155,487,716 | G/A | — | conflicting classifications of pathogenicity |
| rs867633933 | 4:155,487,753 | C/A | — | uncertain significance |
| rs1277349539 | 4:155,487,760 | T/G | — | likely benign |
| rs772160258 | 4:155,487,774 | A/C | — | uncertain significance |
| rs764952511 | 4:155,487,794 | C/T | — | likely benign |
| rs1578782707 | 4:155,487,812 | A/C | — | uncertain significance |
| rs111502670 | 4:155,487,825 | G/C | — | likely pathogenic |
| rs2227407 | 4:155,487,984 | C/T | — | benign |
| rs2227408 | 4:155,488,072 | A/T | — | benign |
| rs2110768107 | 4:155,488,760 | T/A | — | uncertain significance |
| rs149963684 | 4:155,488,764 | T/A | — | likely benign |
| rs754323874 | 4:155,488,767 | G/A | — | likely benign |
| rs201909029 | 4:155,488,788 | G/C | — | conflicting classifications of pathogenicity |
| rs759250713 | 4:155,488,818 | T/C | — | uncertain significance |
| rs6056 | 4:155,488,821 | C/T | synonymous variant | benign |
| rs2530776502 | 4:155,488,834 | A/C | — | uncertain significance |
| rs1437155247 | 4:155,488,835 | A/G | — | uncertain significance |
| rs121909623 | 4:155,488,840 | C/T | missense variant | pathogenic |
| rs747314723 | 4:155,488,849 | C/T | — | uncertain significance |
| rs121909624 | 4:155,488,859 | T/A | missense variant | pathogenic |
| rs778766319 | 4:155,488,910 | A/G | — | uncertain significance |
| rs1363577874 | 4:155,488,913 | T/C | — | uncertain significance |
| rs772014512 | 4:155,488,924 | C/T | — | uncertain significance |
| rs2530777963 | 4:155,488,931 | C/G | — | uncertain significance |
| rs1578783532 | 4:155,488,933 | T/C | — | pathogenic |
| rs149599496 | 4:155,488,936 | A/G | — | conflicting classifications of pathogenicity |
| rs1730226269 | 4:155,488,945 | T/C | — | uncertain significance |
| rs2227411 | 4:155,489,085 | A/G | — | benign |
| rs2227412 | 4:155,489,095 | A/G | — | benign |
| rs759800033 | 4:155,489,563 | A/G | — | uncertain significance |
| rs776988939 | 4:155,489,566 | C/T | — | uncertain significance |
| rs201536638 | 4:155,489,576 | G/A | — | uncertain significance |
| rs2530780843 | 4:155,489,587 | A/C | — | uncertain significance |
| rs6054 | 4:155,489,608 | C/T | missense variant | pathogenic |
| rs913936601 | 4:155,489,625 | G/T | — | uncertain significance |
| rs767947958 | 4:155,489,656 | C/T | — | likely benign |
| rs115820299 | 4:155,489,657 | G/A | — | likely benign |
| rs6058 | 4:155,490,344 | G/T | — | benign |
| rs746420120 | 4:155,490,345 | A/T | — | uncertain significance |
| rs1578784790 | 4:155,490,354 | C/T | — | uncertain significance |
| rs761932805 | 4:155,490,380 | C/T | — | likely benign |
| rs2530784473 | 4:155,490,387 | T/C | — | uncertain significance |
| rs181245987 | 4:155,490,426 | A/T | — | uncertain significance |
| rs151153332 | 4:155,490,434 | T/G | — | conflicting classifications of pathogenicity |
| rs2530784780 | 4:155,490,447 | T/C | — | uncertain significance |
| rs374463429 | 4:155,490,457 | C/T | — | uncertain significance |
| rs606231223 | 4:155,490,472 | C/T | — | pathogenic |
| rs1578785100 | 4:155,490,666 | G/A | — | uncertain significance |
| rs1280158281 | 4:155,490,677 | C/A | — | uncertain significance |
| rs1578785111 | 4:155,490,681 | G/C | — | pathogenic |
| rs1292310583 | 4:155,490,717 | C/A | — | uncertain significance |
| rs751610009 | 4:155,490,733 | A/G | — | uncertain significance |
Showing 100 of 178 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.