Mutation Details for c.2775_2776delTT

cDNA Name c.2775_2776delTT 
Protein Name p.Leu926AlafsX48 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 2907delTT 
Other Details This mutation was found on one CF chromosome of Slovenian origin by SSCP analysis followed by direct sequencing. Patient who carries this mutation is 20 years old with pancreatic insufficiency and is heterozygous for [delta]F508. 
Contributors Ravnik-Glavac M, Glavac D, Komel R, Dean M   1992-07-16
Institute National Institutes of Health Frederick, MD, USA 
Submitted Phenotype Details  
Reference Ravnik-Glavac et al. 1993 

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The Database was last updated at Apr 25, 2011