OMIM: 600316Inheritance: Autosomal recessive
Classification: Diseases of the ear and mastoid process
Related informations: Orphanet Gene Tests Clinical Synopsis Clinical Trials| Gene/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