Mutation Details for c.1582G>A

cDNA Name c.1582G>A 
Protein Name p.Glu528Lys 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name E528K 
Other Details The mutation was identified in Polish child during CF newborn screening programme.  
Contributors Wertheim Katarzyna, Sobczyńska-Tomaszewska Agnieszka, Ołtarzewski Mariusz, Bal Jerzy    2008-03-04
Institute Institute of Mother and Child, Dept of Medical Genetics Poland 
Submitted Phenotype Details I-IRT (CF newborn screening) = 171μg/L, II-IRT = 106,99μg/L No other mutation found after sequencing of exons:7, 10, 11, 13, 21. Mutations 3849+10kb C>T , dele2,3(21kb), R117H were also excluded.  

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The Database was last updated at Apr 25, 2011