Mutation Details for c.2286G>T

cDNA Name c.2286G>T 
Protein Name p.Gln762His 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2418GG>T  
Other Details This mutation was identified on one Greek CF chromosome. 
Contributors Maria Tzetis; Konstantina Pouliou; Alexia Tsiamouri; Emmanuel Kanavakis   2003-12-17
Institute Department of Medical Genetics; Athens University 
Submitted Phenotype Details The individual (male; 3yrs old) is diagnosed clinically of CF. His sweat chloride is 120-130 mEql/l. He presented with dehydration; chronic cough and PI colonization. The other mutation remains unknown. 

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The Database was last updated at Apr 25, 2011