OMIM: 227500Inheritance: Autosomal recessive
Classification: Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | F7 |
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| Dna Change: | 10648C>T |
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| Protein Change: | Ala244Val |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | |
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| Transcript: | NM_000131.4 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Morocco | Jews | NA | NA | NA | Tamary H et al., 1996Tamary 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; 76(3):283-91 |
| Morocco | Jews | NA | NA | 2600 years ago | Mor-Cohen R et al., 2007Mor-Cohen R, Zivelin A, Fromovich-Amit Y, Kovalski V, Rosenberg N, Seligsohn U, . Age estimates of ancestral mutations causing factor VII deficiency and Dubin-Johnson syndrome in Iranian and Moroccan Jews are consistent with ancient Jewish migrations.. Blood Coagul. Fibrinolysis. 2007; 18(2):139-44 |
References
Mor-Cohen R, Zivelin A, Fromovich-Amit Y, Kovalski V, Rosenberg N, Seligsohn U, Age estimates of ancestral mutations causing factor VII deficiency and Dubin-Johnson syndrome in Iranian and Moroccan Jews are consistent with ancient Jewish migrations.Blood Coagul. Fibrinolysis. 2007; 18(2):139-44
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; 76(3):283-91