OMIM: 600316Inheritance: Autosomal recessive
Classification: Diseases of the ear and mastoid process
Related informations: Orphanet   
Gene Tests   
Clinical Synopsis   
Clinical TrialsGene/Locus: |    MYO15A |
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Dna Change: |    c.5807_5813delCCCGTGG |
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Protein Change: |    p.Arg1937ThrfsX10 |
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Mutation Type: |    Deletion |
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Mutation Effect: |    Frameshift |
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Location: |    exon 24 |
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Transcript: |    NM_016239.3 |
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Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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Turkey | NA | NA | 3 unrelated families/104 unrelated families | NA | Cengiz FB et al., 2010Cengiz FB, Duman D, Sirmaci A, Tokgöz-Yilmaz S, Erbek S, Oztürkmen-Akay H, Incesulu A, Edwards YJ, Ozdag H, Liu XZ, Tekin M, . Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.. Genet Test Mol Biomarkers. 2010; 14(4):543-50 |
Gene/Locus: |    MYO15A |
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Dna Change: |    c.9995_10002dupGCCGGCCC |
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Protein Change: |    p.Ser3335AlafsX121 |
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Mutation Type: |    Duplication |
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Mutation Effect: |    Frameshift |
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Location: |    exon 62 |
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Transcript: |    NM_016239.3 |
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Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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Turkey | NA | NA | 2 unrelated families/104 unrelated families | NA | Cengiz FB et al., 2010Cengiz FB, Duman D, Sirmaci A, Tokgöz-Yilmaz S, Erbek S, Oztürkmen-Akay H, Incesulu A, Edwards YJ, Ozdag H, Liu XZ, Tekin M, . Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.. Genet Test Mol Biomarkers. 2010; 14(4):543-50 |
References
Cengiz FB, Duman D, Sirmaci A, Tokgöz-Yilmaz S, Erbek S, Oztürkmen-Akay H, Incesulu A, Edwards YJ, Ozdag H, Liu XZ, Tekin M, Recurrent and private MYO15A mutations are associated with deafness in the Turkish population.Genet Test Mol Biomarkers. 2010; 14(4):543-50