Mutation Details for c.326_327delAT

cDNA Name c.326_327delAT 
Protein Name p.Tyr109X 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 458delAT 
Other Details This mutation was foudn by SSCP analysis followed by direct sequencing in one Slovenian CF patient who is homozygous without [delta]F508 mutation. The other mutation is not yet identified. 
Contributors Ravnik-Glavac M, Glavac D, Komel R, Dean M   1992-06-17
Institute National Institutes of Health Frederick, MD, USA 
Submitted Phenotype Details  
Reference Ravnik-Glavac et al. (NL #46) 

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The Database was last updated at Apr 25, 2011