Mutation Details for c.1617_1618insTA

cDNA Name c.1617_1618insTA 
Protein Name p.Val540X 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name 1749insTA 
Other Details This mutation was detected by DDGE and identified by direct sequencing. It is associated with a [delta]F508 in a mucoviscidosis phenotype.  
Contributors Dubourg C, Blayau M, David V   2000-08-13
Institute Laboratoire de Génétique Moléculaire, France 
Submitted Phenotype Details  
Reference Dubourg et al. 2000 

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The Database was last updated at Apr 25, 2011