| Phenotype: | Combined factor V and VIII deficiency |
|---|---|
| Dna Change: | c.IVS9+2T>C |
| Protein Change: | |
| Mutation Type: | Substitution |
| Mutation Effect: | Splice site |
| Location: | intron 9 |
| Transcript: | NM_005570.3 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Tunisia | NA | the island of Djerba | carrier rate of 1.07% | NA | Segal A et al., 2004Segal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U, . A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia.. Blood Coagul. Fibrinolysis. 2004; 15(1):99-102 |
Segal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U, A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia.Blood Coagul. Fibrinolysis. 2004; 15(1):99-102