Mutation Details for c.3766_3767insC

cDNA Name c.3766_3767insC 
Protein Name p.Leu1258PhefsX7 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name 3898insC 
Other Details The mutation was found once on 87 non-[delta] chromosomes analyzed through DGGE and direct sequencing. The affected child is 17 years old, with a severe form of the disease. She is PI and she has undergone a lung transplant last year. She carries an exon 19 mutation on the other chromosome. 
Contributors Ferec C, Guillermit H, Quere I, Verlingue C   1991-04-18
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient (female, 28y) is PI, has severe lung disease and sweat chloride 89 mmol/l, and carries R1162X on the other allele. (pers.corr. Ferec) 
Reference Audr├ęzet et al. 1993a 

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The Database was last updated at Apr 25, 2011