Mutation Details for c.881_882delAA

cDNA Name c.881_882delAA 
Protein Name p.Lys294ThrfsX13 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1013delAA 
Other Details This mutation was detected by chemical mismatch cleanage and direct sequencing. The mutation is a frameshift in exon 7 of the CFTR gene. This mutation can be detected using ASOs: normal 5'AGAACTGAAACTGACTC 3', mutant 5' CAGAACTGACTGACTCG 3', with final wash at 41 C in 40 mM NaHPO4, 1mM EDTA, 0.5% SDS for 15 minutes. The mutation was found in a caucasioan CF patient who has a [delta]F508 mutation on the other chromosome. He is pancreatic sufficient. This mutation was not found in 18 normal chromosomes and 18 CF chromosomes, also it not found in 18 normal chromsomes and 18 CF chromosomes, also it was not detected in foru CF patients with genotype [delta]F508/unknown. 
Contributors Nasr S, Strong T, Collins F   1993-10-11
Institute University of Michigan Ann Arbor, MI, USA 
Submitted Phenotype Details  
Reference Nasr et al. 1994 

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The Database was last updated at Apr 25, 2011