OMIM: 604772Inheritance: Autosomal dominant
Classification: Diseases of the circulatory system
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/Locus: | RYR2 |
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| Dna Change: | c.1069G>A |
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| Protein Change: | p.Gly357Ser |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Missense |
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| Location: | exon 13 |
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| Transcript: | NM_001035.2 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Spain | NA | NA | large family | NA | Wangüemert F et al., 2015Wangüemert F, Bosch Calero C, Pérez C, Campuzano O, Beltran-Alvarez P, Scornik FS, Iglesias A, Berne P, Allegue C, Ruiz Hernandez PM, Brugada J, Pérez GJ, Brugada R, . Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.. Heart Rhythm. 2015; 12(7):1636-43 |
References
Wangüemert F, Bosch Calero C, Pérez C, Campuzano O, Beltran-Alvarez P, Scornik FS, Iglesias A, Berne P, Allegue C, Ruiz Hernandez PM, Brugada J, Pérez GJ, Brugada R, Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.Heart Rhythm. 2015; 12(7):1636-43