OMIM: 254130Inheritance: Autosomal recessive
Classification: Diseases of the nervous system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | DYSF |
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| Dna Change: | c.5713C>T |
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| Protein Change: | p.Arg1905X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 51 |
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| Transcript: | NM_003494.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | Sueca | 2 families | NA | Vilchez JJ et al., 2005Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I, . Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.. Arch. Neurol.. 2005; 62(8):1256-9 |
References
Vilchez JJ, Gallano P, Gallardo E, Lasa A, Rojas-García R, Freixas A, De Luna N, Calafell F, Sevilla T, Mayordomo F, Baiget M, Illa I, Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.Arch. Neurol.. 2005; 62(8):1256-9