Mutation Details for c.1093_1094delCT

cDNA Name c.1093_1094delCT 
Protein Name p.Leu365TrpfsX16 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1221delCT 
Other Details WE have used DGGE and direct DNA sequencing to identify this 2 base pairs CT deletion situated between position 1221-1226 of exon 7. The child is four years old with a severe form of the disease. He had no meconium ileus at birth, is PI with a severe lung disease. The CT deletion is carrying on a A haplotype, the other C haplotype carries a non identified mutation. The CT deletion creates a termination codon (TAA) downstream at codon position 364 + 16 of the mutated allele. 
Contributors Quere I, Audrezet MP, Mercier B, Guillermit H, Verlingue C, Ferec C   1991-08-17
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient (male, 15y) had no meconium ileus at birth, is PI, has severe lung disease and carries 1078delT on the other allelle. (pers. corr. Ferec) 
Reference FĂ©rec et al. 1992 

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The Database was last updated at Apr 25, 2011