Mutation Details for c.1792A>T

cDNA Name c.1792A>T 
Protein Name p.Lys598X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name K598X 
Other Details This mutation was detected by DHPLC analysis followed by direct sequencing. This mutation was found in one CF patient of romanian origin who carried the G542X allele on the second CF allele.  
Contributors Seia M, Porcaro L., Colombo C., Russo M.C.   2006-09-21
Institute Fondazione Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena 
Submitted Phenotype Details The boy was diagnosed because of positive neonatal screening (persistent neonatal hypertrypsinemia), sweat chloride were 111.03 and 95.88 mEq/l. No respiratory symptoms, pancreatic insufficiency and normal growth at 6 months.  

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The Database was last updated at Apr 25, 2011