Gene Symbol: MYO15A
OMIM: 602666Chromosome location: 17p11.2
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Deafness, autosomal recessive 3 |
|---|
| Dna Change: | c.5807_5813delCCCGTGG |
|---|
| Protein Change: | p.Arg1937ThrfsX10 |
|---|
| Mutation Type: | Deletion |
|---|
| Mutation Effect: | Frameshift |
|---|
| Location: | exon 24 |
|---|
| Transcript: | NM_016239.3 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| 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 |
| Phenotype: | Deafness, autosomal recessive 3 |
|---|
| Dna Change: | c.9995_10002dupGCCGGCCC |
|---|
| Protein Change: | p.Ser3335AlafsX121 |
|---|
| Mutation Type: | Duplication |
|---|
| Mutation Effect: | Frameshift |
|---|
| Location: | exon 62 |
|---|
| Transcript: | NM_016239.3 |
|---|
| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| 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