F7
Gene name: coagulation factor VII (serum prothrombin conversion accelerator)OMIM ID: 613878
Chromosome location: 13q34
Mutations
| Disease/Phenotype | Factor VII deficiency |
|---|---|
| Reference transcript | NM_019616.3 |
| DNA Change | c.731C>T |
| A.A. Change | p.Ala244Val |
| Exon/Intron | exon 7 |
| Mutation Type | substitution |
| Reference | Tamary H, Fromovich Y, Shalmon L, Reich Z, Dym O, Lanir N, Brenner B, Paz M, Luder AS, Blau O, Korostishevsky M, Zaizov R, Seligsohn U.Ala244Val is a common, probably ancient mutation causing factor VII deficiency in Moroccan and Iranian Jews. Thromb Haemost. 1996 Sep;76(3):283-91. |