Mutation Details for c.2782G>C

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

cDNA Name c.2782G>C 
Protein Name p.Ala928Pro 
Exon or Intron  
Other Details  
Contributors and Institutes
El Seedy A., Farhat R, Pasquet M.C., Ladevèze V, Kitzis A - Laboratoire de Genetique Moleculaire des Maladies Rares, CHU de Poitiers, Université de Poitiers, France
Submitted Phenotype Details It was detected in one Egyptian CFTR-RD patient by direct sequencing. The mutation on the other chromosome is unknown 

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The Database was last updated at Apr 25, 2011