Mutation Details for c.204A>T

cDNA Name c.204A>T 
Protein Name p.Lys68Asn 
Exon or Intron exon 3 
Legacy Exon or Intron exon 3 
Legacy Name K68N 
Other Details This mutation was detected in a single Turkish CF patient of Syrian origin. The second mutation is yet unknown. The mutation segregates with haplotype C. 
Contributors Dork T, Tummler B   1992-08-11
Institute Medizinische Hochschule Hannover Hannova, Germany 
Submitted Phenotype Details The patient (male) has CF and is PS. Unknown other mutation. (pers.corr. Dork) 
Reference Dörk & Tümmler (NL#48) 

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The Database was last updated at Apr 25, 2011