Gene Symbol: VWF
OMIM: 613160Chromosome location: 12p13.31
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | von Willebrand disease, type 1 |
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| Dna Change: | c.7085G>T |
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| Protein Change: | p.Cys2362Phe |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 42 |
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| Transcript: | NM_000552.3 |
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| Phenotype: | von Willebrand disease, type 1 |
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| Dna Change: | c.3389G>T (G3639T) |
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| Protein Change: | p.Cys1130Phe (C1130F) |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 26 |
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| Transcript: | NM_000552.3 |
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| Phenotype: | von Willebrand disease, type 1 |
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| Dna Change: | c.2561G>A |
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| Protein Change: | p.Arg854Gln |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 20 |
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| Transcript: | NM_000552.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | NA | 13 unrelated families | 10000 years ago | Casonato A et al., 2013Casonato A, Daidone V, Barbon G, Pontara E, Di Pasquale I, Gallinaro L, Marullo L, Bertorelle G, . A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.. Haematologica. 2013; 98(1):147-52 |
References
Casonato A, Daidone V, Barbon G, Pontara E, Di Pasquale I, Gallinaro L, Marullo L, Bertorelle G, A common ancestor more than 10,000 years old for patients with R854Q-related type 2N von Willebrand's disease in Italy.Haematologica. 2013; 98(1):147-52
Castaman G, Eikenboom JC, Missiaglia E, Rodeghiero F, Autosomal dominant type 1 von willebrand disease due to G3639T mutation (C1130F) in exon 26 of von Willebrand factor gene: description of five Italian families and evidence for a founder effect.Br. J. Haematol.. 2000; 108(4):876-9
Castaman G, Novella E, Castiglia E, Eikenboom JC, Rodeghiero F, A novel family with recessive von Willebrand disease due to compound heterozygosity for a splice site mutation and a missense mutation in the von Willebrand factor gene.Thromb. Res.. 2002; 105(2):135-8