F8
coagulation factor VIII
Summary
This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]
Known Variants720 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs782700848 | X:154,064,141 | A/G | — | uncertain significance |
| rs1050705 | X:154,064,200 | C/T | — | benign |
| rs1803603 | X:154,064,344 | G/A | — | — |
| rs34683807 | X:154,064,397 | G/C | — | — |
| rs186338743 | X:154,064,456 | C/A | — | benign |
| rs36101366 | X:154,064,493 | T/C | — | likely benign |
| rs1032816312 | X:154,064,510 | T/A | — | uncertain significance |
| rs34700571 | X:154,064,658 | C/T | — | benign |
| rs950453657 | X:154,064,697 | C/G | — | uncertain significance |
| rs984572217 | X:154,064,706 | T/C | — | uncertain significance |
| rs1603430909 | X:154,064,855 | G/T | — | uncertain significance |
| rs183289212 | X:154,064,871 | G/A | — | benign |
| rs782499043 | X:154,064,880 | T/C | — | likely benign |
| rs892955433 | X:154,064,897 | T/C | — | uncertain significance |
| rs1259930797 | X:154,064,957 | C/T | — | uncertain significance |
| rs2072478087 | X:154,064,964 | A/C | — | uncertain significance |
| rs1057515824 | X:154,065,010 | T/C | — | uncertain significance |
| rs782195878 | X:154,065,412 | C/T | — | uncertain significance |
| rs782273756 | X:154,065,446 | C/T | — | uncertain significance |
| rs1044626956 | X:154,065,584 | G/T | — | uncertain significance |
| rs2072481964 | X:154,065,696 | C/T | — | uncertain significance |
| rs782435894 | X:154,065,794 | G/A | — | uncertain significance |
| rs2072483147 | X:154,065,816 | C/A | — | likely pathogenic |
| rs376482768 | X:154,065,842 | C/T | — | likely benign |
| rs5986887 | X:154,065,843 | G/A | — | benign |
| rs1557271042 | X:154,065,897 | C/T | — | likely pathogenic |
| rs2072484280 | X:154,065,907 | C/T | — | likely pathogenic |
| rs2523812635 | X:154,065,913 | T/A | — | likely pathogenic |
| rs2072484506 | X:154,065,933 | C/T | — | pathogenic |
| rs1557271047 | X:154,065,937 | T/A | — | uncertain significance |
| rs137852360 | X:154,065,951 | C/T | missense variant | pathogenic |
| rs137852354 | X:154,065,952 | G/A | stop gained | pathogenic |
| rs137852474 | X:154,065,960 | C/G | missense variant | pathogenic |
| rs137852473 | X:154,065,961 | G/A | missense variant | pathogenic |
| rs2148555597 | X:154,065,969 | A/C | — | likely pathogenic |
| rs200902529 | X:154,065,971 | C/T | — | likely benign |
| rs137852472 | X:154,065,972 | G/A | missense variant | pathogenic |
| rs137852374 | X:154,065,973 | G/A | missense variant | pathogenic |
| rs782799573 | X:154,065,977 | G/C | — | conflicting classifications of pathogenicity |
| rs1047644991 | X:154,065,996 | G/T | — | pathogenic |
| rs373079141 | X:154,065,999 | G/A | — | uncertain significance |
| rs1603430929 | X:154,066,008 | T/G | — | pathogenic |
| rs1393847621 | X:154,066,752 | A/G | — | uncertain significance |
| rs1409681779 | X:154,088,706 | C/G | — | likely pathogenic |
| rs139348729 | X:154,088,736 | T/C | — | uncertain significance |
| rs2072681848 | X:154,088,739 | A/G | — | pathogenic |
| rs137852471 | X:154,088,742 | G/A | stop gained | pathogenic |
| rs1319284046 | X:154,088,758 | G/A | — | likely benign |
| rs2072682134 | X:154,088,773 | C/A | — | uncertain significance |
| rs2523837290 | X:154,088,782 | A/T | — | pathogenic |
| rs2523837302 | X:154,088,786 | A/G | — | conflicting classifications of pathogenicity |
| rs781890169 | X:154,088,789 | C/T | — | uncertain significance |
| rs2072682503 | X:154,088,795 | A/G | — | likely pathogenic |
| rs387906465 | X:154,088,812 | — | — | pathogenic |
| rs137852470 | X:154,088,813 | T/C | missense variant | pathogenic |
| rs1603431479 | X:154,088,831 | A/T | — | likely pathogenic |
| rs1800297 | X:154,088,838 | T/C | — | benign |
| rs2072683196 | X:154,088,853 | C/G | — | pathogenic |
| rs1603431480 | X:154,088,856 | C/T | — | uncertain significance |
| rs137852469 | X:154,088,863 | C/A | missense variant | pathogenic |
| rs1226940708 | X:154,088,865 | A/C | — | pathogenic |
| rs782654096 | X:154,088,883 | C/T | — | benign |
| rs1395992838 | X:154,089,996 | A/C | — | likely benign |
| rs1174359623 | X:154,089,997 | G/A | — | likely pathogenic |
| rs1377166595 | X:154,090,003 | C/T | — | pathogenic |
| rs2523839082 | X:154,090,006 | G/A | — | likely pathogenic |
| rs2148567205 | X:154,090,007 | C/A | — | uncertain significance |
| rs2072692745 | X:154,090,019 | C/A | — | likely pathogenic |
| rs201870876 | X:154,090,020 | T/C | — | conflicting classifications of pathogenicity |
| rs1603431506 | X:154,090,030 | A/G | — | pathogenic |
| rs1603431508 | X:154,090,031 | G/A | — | pathogenic |
| rs137852358 | X:154,090,033 | C/T | missense variant | pathogenic |
| rs137852355 | X:154,090,034 | G/C | missense variant | pathogenic |
| rs1342196860 | X:154,090,037 | C/T | — | pathogenic |
| rs375400068 | X:154,090,053 | G/T | — | likely benign |
| rs782548763 | X:154,090,058 | C/G | — | pathogenic |
| rs1376267823 | X:154,090,063 | A/T | — | uncertain significance |
| rs782627131 | X:154,090,064 | T/C | — | uncertain significance |
| rs1603431511 | X:154,090,078 | G/A | — | pathogenic |
| rs137852468 | X:154,090,085 | C/G | missense variant | pathogenic |
| rs782198570 | X:154,090,093 | T/C | — | likely pathogenic |
| rs1472169963 | X:154,090,094 | G/C | — | pathogenic |
| rs2072694107 | X:154,090,099 | T/C | — | likely pathogenic |
| rs2148567338 | X:154,090,123 | C/T | — | likely pathogenic |
| rs1603431512 | X:154,090,124 | C/T | — | likely pathogenic |
| rs2523839448 | X:154,090,140 | A/T | — | likely pathogenic |
| rs137852365 | X:154,091,378 | A/G | missense variant | pathogenic |
| rs1412892301 | X:154,091,381 | T/C | — | likely pathogenic |
| rs2148568062 | X:154,091,382 | C/G | — | likely pathogenic |
| rs781797728 | X:154,091,385 | T/C | — | pathogenic |
| rs137852466 | X:154,091,387 | C/T | missense variant | pathogenic |
| rs137852467 | X:154,091,388 | G/A | missense variant | pathogenic |
| rs137852465 | X:154,091,399 | C/A | missense variant | pathogenic |
| rs137852464 | X:154,091,400 | G/A | missense variant | pathogenic |
| rs137852463 | X:154,091,414 | G/A | missense variant | pathogenic |
| rs137852462 | X:154,091,417 | G/T | missense variant | pathogenic |
| rs137852461 | X:154,091,426 | C/T | missense variant | pathogenic |
| rs782641941 | X:154,091,427 | G/A | — | pathogenic |
| rs137852357 | X:154,091,436 | G/A | stop gained | pathogenic |
| rs1450770782 | X:154,091,447 | G/A | — | likely pathogenic |
Showing 100 of 720 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.