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