Mutation Details for c.409_412delCTCC

cDNA Name c.409_412delCTCC 
Protein Name p.Leu137TyrfsX15 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 541del4 
Other Details A deletion of 4 nucleotides was identified in exon 4 : 541 del CTCC. The other chromosome carries a [delta]I507. The patient is pancreatic insufficient with a severe form of the disease. The patient is of French origin. 
Contributors Ferec C, Quere I, Audrezet MP, Verlingue C, Raguenes O, Guillermit H, Mercier B   1993-02-19
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient (male, 22y) is PI and has severe lung disease. He carries DeltaI507 on the other allele. (pers. corr. Ferec) 
Reference FĂ©rec et al. (NL#53) 

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The Database was last updated at Apr 25, 2011