Mutation Details for c.2464G>A

cDNA Name c.2464G>A 
Protein Name p.Glu822Lys 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name E822K 
Other Details A nucleotide change, G->A was observed in exon 13 at position 2596 leading to E822K. The patient is 13 years old, and pancreatic insufficient. The other mutation is still unknown. This mutation was found once among 28 Belgian CF chromosomes.  
Contributors Lissens W, Bonduelle M, Liebaers I, Ferec C, Quere I, Mercier B, Audrezet MP   1992-05-12
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was found in a Belgian PI CF patient. (pers. corr. Ferec) 
Reference Mercier et al. 1993a 

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The Database was last updated at Apr 25, 2011