Mutation Details for c.1697C>A
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.1697C>A
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Protein Name
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p.Ala566Asp
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Exon or Intron
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Other Details
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He originated from the Esfahan
province in the centre of Iran.
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Contributors and Institutes
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Submitted Phenotype Details
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The p.A566D mutation is located in exon 12 and was
found in homozygous state in 1 consanguineous patient who
has a classical CF phenotype.
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Reference
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Alibakhshi R, Kianashirazi R, Jean-Jasques C, Zamani M, Cuppens H. Analysis of the CFTR gene in Iranian cystic fibrosis patients:Identification of eight novel mutations. J Cystic Fibrosis . 2008;7:102–109.
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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