OMIM: 115197Inheritance: Autosomal dominant
Classification: Diseases of the circulatory system
Related informations: Orphanet   
Gene Tests   
Clinical Synopsis   
Clinical TrialsGene/Locus: |    MYBPC3 |
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Dna Change: |    c.772G>A |
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Protein Change: |    p.Glu258Lys |
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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_000256.3 |
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Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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Italy | NA | NA | 14% | NA | Girolami F et al., 2006Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, Fantini S, Baldini K, Torricelli F, Cecchi F, . A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.. J Cardiovasc Med (Hagerstown). 2006; 7(8):601-7 |
Gene/Locus: |    MYBPC3 |
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Dna Change: |    c.913_914delTT |
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Protein Change: |    p.Phe305Profs*27 |
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Mutation Type: |    Deletion |
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Mutation Effect: |    Frameshift |
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Location: |    exon 11 |
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Transcript: |    NM_000256.3 |
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Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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Italy | NA | NA | 19.5% (19 patients/97 patients) | NA | Calore C et al., 2015Calore C, De Bortoli M, Romualdi C, Lorenzon A, Angelini A, Basso C, Thiene G, Iliceto S, Rampazzo A, Melacini P, . A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.. J. Med. Genet.. 2015; 0(0): |
References
Calore C, De Bortoli M, Romualdi C, Lorenzon A, Angelini A, Basso C, Thiene G, Iliceto S, Rampazzo A, Melacini P, A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.J. Med. Genet.. 2015; 0(0):
Girolami F, Olivotto I, Passerini I, Zachara E, Nistri S, Re F, Fantini S, Baldini K, Torricelli F, Cecchi F, A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.J Cardiovasc Med (Hagerstown). 2006; 7(8):601-7