Mutation Details for c.595C>T

cDNA Name c.595C>T 
Protein Name p.His199Tyr 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name H199Y 
Other Details The mutation was found in a German CF patient who is heterozygous for [delta]F508 and negative for more than 120 other known mutations. The patient was diagnosed by the age of four years because of recurrent pneumonias, but exhibits only mild pancreatic symptoms and borderline swet chloride values. So far, H199Y was not found in a further 28 German and 8 Turkish non-[delta]F508 CF chromosomes.  
Contributors Dork T, Tummler B   1992-05-13
Institute Medizinishce Hochschule Hannover Hannova, Germany 
Phenotype Information CFTR2
Reference Dörk & Tümmler (NL#45) 

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The Database was last updated at Apr 25, 2011