Mutation Details for c.1697C>A

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.1697C>A 
Protein Name p.Ala566Asp 
Exon or Intron  
Other Details He originated from the Esfahan province in the centre of Iran. 
Contributors and Institutes
unknown - unknown
Submitted Phenotype Details 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. 
Reference 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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The Database was last updated at Apr 25, 2011