Mutation Details for c.1687T>C

cDNA Name c.1687T>C 
Protein Name p.Tyr563His 
Exon or Intron  
Other Details  
Contributors and Institutes
Krenkova P., Macek Jr. M., Balascakova M. - Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic
Submitted Phenotype Details This mutation was detected in one Czech female patient, diagnosed at 2 months of age, PI, anemia, cough, sweat chloride level about 100 mmo/l. The other mutant allele is F508del. 

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The Database was last updated at Apr 25, 2011