Mutation Details for c.-887C>T

cDNA Name c.-887C>T 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name -816C->T 
Other Details This mutation was detected by DGGE using chemical clamps and identified by direct sequencing. This involved a change from C to T at -816 form the cap site. This mutation can easily be detected by restriction enzyme digestion, as it creates an Mboll site. This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. The patient presents a moderate pulmonary form. 
Contributors Bienvenu T, Cazeneuve C, Kaplan JC, Beldjord C   1993-12-22
Institute Hopitaux de Paris Paris, France 
Submitted Phenotype Details The mutation was found in a 45 years old patient diagnosed at 34y. He is PS, has moderate lung disease with bronchiectasis, and Pseudomonas Aeruginosa colonization. No other mutation was identified. (pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL#60) 

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The Database was last updated at Apr 25, 2011