Mutation Details for c.3229_3230delCT

cDNA Name c.3229_3230delCT 
Protein Name p.Leu1077ValfsX78 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name 3359delCT 
Other Details  
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP, Mercier B, Guillermit H   1992-04-27
Institute Centre de Transfusion Snaguine et de Biogénétique Brest, France 
Submitted Phenotype Details The French CF patient (female, deceased) was diagnosed at birth with meconium ileus. (pers.corr. Ferec) 
Reference Mercier et al. 1993b & NL#45 

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The Database was last updated at Apr 25, 2011