| Phenotype: | Megaloblastic anemia-1, Norwegian type |
|---|---|
| Dna Change: | c.208-2A>G |
| Protein Change: | |
| Mutation Type: | Substitution |
| Mutation Effect: | Splice site |
| Location: | intron 3 |
| Transcript: | NM_030943.3 |
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|---|---|---|---|---|
| Tunisia | NA | NA | 1 family / 6 unrelated families | NA | Bouchlaka C et al., 2007Bouchlaka C, Maktouf C, Mahjoub B, Ayadi A, Sfar MT, Sioud M, Gueddich N, Belhadjali Z, Rebaï A, Abdelhak S, Dellagi K, . Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.. J. Hum. Genet.. 2007; 52(3):262-70 |
| Tunisia | Jews | NA | 1 family | NA | Tanner SM et al., 2003Tanner SM, Aminoff M, Wright FA, Liyanarachchi S, Kuronen M, Saarinen A, Massika O, Mandel H, Broch H, de la Chapelle A, . Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.. Nat. Genet.. 2003; 33(3):426-9 |
Bouchlaka C, Maktouf C, Mahjoub B, Ayadi A, Sfar MT, Sioud M, Gueddich N, Belhadjali Z, Rebaï A, Abdelhak S, Dellagi K, Genetic heterogeneity of megaloblastic anaemia type 1 in Tunisian patients.J. Hum. Genet.. 2007; 52(3):262-70
Tanner SM, Aminoff M, Wright FA, Liyanarachchi S, Kuronen M, Saarinen A, Massika O, Mandel H, Broch H, de la Chapelle A, Amnionless, essential for mouse gastrulation, is mutated in recessive hereditary megaloblastic anemia.Nat. Genet.. 2003; 33(3):426-9