OMIM: 306900Inheritance: X-linked 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: | F9 |
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| Dna Change: | c.572G>A |
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| Protein Change: | p.Arg191His (Arg145His) |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 6 |
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| Transcript: | NM_000133.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| France | NA | Rhone Alpes | 11% | NA | Attali O et al., 1999Attali O, Vinciguerra C, Trzeciak MC, Durin A, Pernod G, Gay V, Ménart C, Sobas F, Dechavanne M, Négrier C, . Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.. Thromb. Haemost.. 1999; 82(5):1437-42 |
| Gene/Locus: | F9 |
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| Dna Change: | c.697G>A |
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| Protein Change: | p.Ala233Thr |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 6 |
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| Transcript: | NM_000133.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| France | NA | Rhone Alpes | 19% | NA | Attali O et al., 1999Attali O, Vinciguerra C, Trzeciak MC, Durin A, Pernod G, Gay V, Ménart C, Sobas F, Dechavanne M, Négrier C, . Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.. Thromb. Haemost.. 1999; 82(5):1437-42 |
References
Attali O, Vinciguerra C, Trzeciak MC, Durin A, Pernod G, Gay V, Ménart C, Sobas F, Dechavanne M, Négrier C, Factor IX gene analysis in 70 unrelated patients with haemophilia B: description of 13 new mutations.Thromb. Haemost.. 1999; 82(5):1437-42