Gene Symbol: ANO5
OMIM: 608662Chromosome location: 11p14.3
Related informations:  
NCBI Gene  
Genome Browser  
Ensembl  
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Kyoto Encyclopedia  
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HGNC  
HPRD  
Phenotype: |    Miyoshi muscular dystrophy 3 |
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Dna Change: |    c.191dupA |
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Protein Change: |    p.Asn64Lysfs |
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Mutation Type: |    Substitution |
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Mutation Effect: |    Missense |
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Location: |    exon 5 |
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Transcript: |    NM_213599.2 |
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References
Bouquet F, Cossée M, Béhin A, Deburgrave N, Romero N, Leturcq F, Eymard B, Miyoshi-like distal myopathy with mutations in anoctamin 5 gene.Rev. Neurol. (Paris). 2012; 168(2):135-41