Mutation Details for c.2743G>C

cDNA Name c.2743G>C 
Protein Name p.Val915Leu 
Exon or Intron exon 17 
Other Details No second mutation detected after sequencing of all CFTR-exons 
Contributors and Institutes
Wagner Klaus - Medical University Graz, Institute of Human Genetics
Submitted Phenotype Details The male patient was born 2008, parents are not available for analysis. Meconium illeus, recurrent infections, long-term parenteral nutrition. Sweat test was not performed 

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The Database was last updated at Apr 25, 2011