F12
Gene name: coagulation factor XII (Hageman factor)OMIM ID: 610619
Chromosome location: 5q35.3
Mutations
| Disease/Phenotype | Angioedema, hereditary, type III |
|---|---|
| Reference transcript | NM_000505.3 |
| DNA Change | c.983C>A |
| A.A. Change | p.Thr328Lys |
| Exon/Intron | exon 9 |
| Mutation Type | substitution |
| Reference | Baeza ML, Rodr?guez-Marco A, Prieto A, Rodr?guez-Sainz C, Zubeldia JM, Rubio M.Factor XII gene missense mutation Thr328Lys in an Arab family with hereditary angioedema type III. Allergy. 2011 Jul;66(7):981-2 |