Mutation Details for c.4143C>A

cDNA Name c.4143C>A 
Protein Name p.Tyr1381X 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name Y1381X 
Other Details This change has been detected by DGGE analysis and direct sequencing 
Contributors T. Casals, MD: Ramos, J. Gimenez, R. Cabanas   2002-01-01
Institute CGMM-IRO, Barcelona, Spain Hospital U. Santiago S. Compostela, Spain 
Submitted Phenotype Details The patient (male, 2y 9m) was diagnosed at 15m, PI, sweat test over 100 mMol/L and St. aureus lung colonisation. He was found homozygous for the Y1381X mutation. 

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The Database was last updated at Apr 25, 2011