Mutation Details for c.166G>A

cDNA Name c.166G>A 
Protein Name p.Glu56Lys 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name E56K 
Other Details Missense mutation E56K was identified in a German CBAVD patient heterozygous for this mutation and for [delta]F508. 
Contributors Dörk T, Schmidtke J, Stuhrmann M   1996-10-06
Institute Insitut fur Humangenetik, Medezinische Hochschule Hannover, Hannover, Germany. 
Submitted Phenotype Details The patient (male,33y) was diagnosed at 32y with CBAVD. He is PS, has sweat chloride 85 mmol/l and recurrent bronchitis. DelF508 is on the other allele. (pers. corr. Dork)  
Reference Dörk et al. (NL#69) 

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The Database was last updated at Apr 25, 2011