Thrombophilia due to thrombin defect
OMIM:176930Mode of inheritance:Autosomal dominant
Disease classification:Disorders involving the immune mechanism
Mutations
| Gene Symbol | F2 |
|---|---|
| Reference transcript | NM_000506.3 |
| DNA Change | c.*97G>A |
| A.A. Change | |
| Exon/Intron | 3' of the stop codon |
| Mutation Type | substitution |
| Reference | Danckwardt S, Hartmann K, Katz B, Hentze MW, Levy Y, Eichele R, Deutsch V, Kulozik AE, Ben-Tal O.The prothrombin 20209 C-->T mutation in Jewish-Moroccan Caucasians: molecular analysis of gain-of-function of 3 end processing. J Thromb Haemost. 2006 May;4(5):1078-85. |