FGA
fibrinogen alpha chain
Summary
This gene encodes the alpha subunit of the coagulation factor fibrinogen, which is a component of the blood clot. Following vascular injury, the encoded preproprotein is proteolytically processed by thrombin during the conversion of fibrinogen to fibrin. Mutations in this gene lead to several disorders, including dysfibrinogenemia, hypofibrinogenemia, afibrinogenemia and renal amyloidosis. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that undergoes proteolytic processing. [provided by RefSeq, Jan 2016]
Known Variants165 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2070022 | 4:155,504,948 | G/A | 3 prime UTR variant | benign |
| rs2070033 | 4:155,505,291 | G/A | — | benign |
| rs749807525 | 4:155,505,332 | C/A | — | uncertain significance |
| rs1280924091 | 4:155,505,350 | A/G | — | uncertain significance |
| rs1316252409 | 4:155,505,385 | T/C | — | uncertain significance |
| rs752380054 | 4:155,505,438 | T/G | — | uncertain significance |
| rs1560823354 | 4:155,505,443 | A/G | — | uncertain significance |
| rs1730655687 | 4:155,505,463 | C/G | — | uncertain significance |
| rs768839775 | 4:155,505,484 | T/G | — | uncertain significance |
| rs1479874554 | 4:155,505,505 | T/A | — | uncertain significance |
| rs148824832 | 4:155,505,527 | G/A | — | uncertain significance |
| rs755826305 | 4:155,505,537 | G/T | — | uncertain significance |
| rs765888222 | 4:155,505,554 | C/T | — | likely benign |
| rs2530815596 | 4:155,505,563 | C/T | — | uncertain significance |
| rs2530815633 | 4:155,505,584 | C/T | — | uncertain significance |
| rs368008640 | 4:155,505,633 | A/G | — | likely benign |
| rs369692720 | 4:155,505,691 | T/G | — | uncertain significance |
| rs61731299 | 4:155,505,692 | C/G | — | likely benign |
| rs1730662429 | 4:155,505,700 | A/G | — | uncertain significance |
| rs2530816003 | 4:155,505,718 | C/G | — | uncertain significance |
| rs1560823652 | 4:155,505,724 | G/T | — | uncertain significance |
| rs373841420 | 4:155,505,728 | G/T | — | uncertain significance |
| rs2110806103 | 4:155,505,749 | C/T | — | uncertain significance |
| rs1404896169 | 4:155,505,764 | C/A | — | uncertain significance |
| rs771023837 | 4:155,505,788 | C/T | — | uncertain significance |
| rs773021324 | 4:155,505,817 | C/T | — | uncertain significance |
| rs185920746 | 4:155,505,826 | T/G | — | uncertain significance |
| rs2110806390 | 4:155,505,853 | A/C | — | uncertain significance |
| rs2110806407 | 4:155,505,856 | A/G | — | uncertain significance |
| rs372547759 | 4:155,505,859 | A/G | — | uncertain significance |
| rs779020384 | 4:155,505,870 | C/A | — | uncertain significance |
| rs142544370 | 4:155,505,888 | G/A | — | likely benign |
| rs568033755 | 4:155,505,979 | T/G | — | uncertain significance |
| rs182736373 | 4:155,506,513 | C/T | — | conflicting classifications of pathogenicity |
| rs369606098 | 4:155,506,596 | A/C | — | conflicting classifications of pathogenicity |
| rs1730682953 | 4:155,506,651 | G/C | — | uncertain significance |
| rs199571440 | 4:155,506,663 | G/C | — | conflicting classifications of pathogenicity |
| rs1424019951 | 4:155,506,666 | T/C | — | uncertain significance |
| rs771429165 | 4:155,506,669 | C/T | — | conflicting classifications of pathogenicity |
| rs747439072 | 4:155,506,686 | A/T | — | uncertain significance |
| rs762123879 | 4:155,506,701 | C/T | — | uncertain significance |
| rs201686865 | 4:155,506,743 | T/C | — | conflicting classifications of pathogenicity |
| rs758105079 | 4:155,506,748 | G/A | — | likely benign |
| rs370873387 | 4:155,506,758 | C/G | — | conflicting classifications of pathogenicity |
| rs2530819015 | 4:155,506,773 | A/T | — | uncertain significance |
| rs1309799184 | 4:155,506,821 | G/C | — | uncertain significance |
| rs78506343 | 4:155,506,863 | C/A | missense variant | pathogenic |
| rs121909613 | 4:155,506,864 | G/A | missense variant | pathogenic |
| rs121909612 | 4:155,506,947 | T/A | missense variant | pathogenic |
| rs587777762 | 4:155,506,952 | — | — | pathogenic |
| rs587777761 | 4:155,506,959 | — | — | pathogenic |
| rs1578795080 | 4:155,506,960 | C/G | — | uncertain significance |
| rs1190260696 | 4:155,506,966 | C/T | — | uncertain significance |
| rs1169274613 | 4:155,506,974 | A/G | — | uncertain significance |
| rs1415258997 | 4:155,506,975 | T/C | — | uncertain significance |
| rs778304190 | 4:155,507,021 | G/A | — | likely benign |
| rs4766 | 4:155,507,039 | A/G | — | likely benign |
| rs2530820089 | 4:155,507,046 | C/A | — | uncertain significance |
| rs2110809573 | 4:155,507,095 | C/A | — | uncertain significance |
| rs1282884412 | 4:155,507,107 | G/A | — | uncertain significance |
| rs1578795296 | 4:155,507,109 | C/T | — | likely pathogenic |
| rs1335171406 | 4:155,507,111 | G/C | — | uncertain significance |
| rs1382669489 | 4:155,507,118 | C/T | — | uncertain significance |
| rs139146037 | 4:155,507,137 | C/T | — | conflicting classifications of pathogenicity |
| rs121909611 | 4:155,507,143 | T/A | stop gained | other |
| rs200378626 | 4:155,507,164 | C/T | — | conflicting classifications of pathogenicity |
| rs2110809896 | 4:155,507,173 | T/C | — | uncertain significance |
| rs2110809914 | 4:155,507,175 | A/C | — | uncertain significance |
| rs780354544 | 4:155,507,208 | C/T | — | uncertain significance |
| rs2070031 | 4:155,507,215 | T/C | — | likely benign |
| rs121909610 | 4:155,507,223 | C/T | missense variant | uncertain significance |
| rs760305794 | 4:155,507,251 | T/C | — | uncertain significance |
| rs2530820826 | 4:155,507,254 | T/G | — | likely benign |
| rs1730710209 | 4:155,507,374 | C/T | — | uncertain significance |
| rs184635235 | 4:155,507,382 | G/A | — | likely benign |
| rs751918931 | 4:155,507,426 | T/C | — | likely benign |
| rs1730713439 | 4:155,507,461 | T/C | — | uncertain significance |
| rs745804153 | 4:155,507,462 | C/T | — | likely pathogenic |
| rs766746856 | 4:155,507,499 | T/C | — | uncertain significance |
| rs201105899 | 4:155,507,509 | C/T | — | conflicting classifications of pathogenicity |
| rs2530822108 | 4:155,507,520 | G/C | — | uncertain significance |
| rs757384888 | 4:155,507,523 | C/G | — | uncertain significance |
| rs777590326 | 4:155,507,533 | C/T | — | uncertain significance |
| rs121909615 | 4:155,507,542 | G/A | stop gained | other |
| rs774664670 | 4:155,507,556 | C/T | — | uncertain significance |
| rs1376400427 | 4:155,507,560 | T/G | — | uncertain significance |
| rs145956993 | 4:155,507,571 | C/T | — | uncertain significance |
| rs575433349 | 4:155,507,580 | C/T | — | pathogenic |
| rs6050 | 4:155,507,590 | T/C | missense variant | pathogenic |
| rs772688113 | 4:155,507,653 | G/A | — | uncertain significance |
| rs760992799 | 4:155,507,658 | C/T | — | uncertain significance |
| rs776817952 | 4:155,507,659 | G/A | — | pathogenic |
| rs750564329 | 4:155,507,662 | T/C | — | uncertain significance |
| rs752326694 | 4:155,507,673 | C/T | — | uncertain significance |
| rs200203992 | 4:155,507,677 | G/C | — | likely benign |
| rs2530822811 | 4:155,507,684 | G/T | — | uncertain significance |
| rs376267644 | 4:155,507,742 | C/T | — | uncertain significance |
| rs1473392017 | 4:155,507,752 | A/G | — | uncertain significance |
| rs886059150 | 4:155,507,759 | G/A | — | uncertain significance |
| rs1578796476 | 4:155,507,770 | G/A | — | pathogenic |
Showing 100 of 165 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.