Mutation Details for c.2052delA

cDNA Name c.2052delA 
Protein Name p.Lys684AsnfsX38 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2184delA 
Other Details  
Contributors Chevalier F, Bozon D   1992-12-02
Institute Hopitaux de Lyon  
Phenotype Information CFTR2
Reference Chevalier & Bozon (NL#51); Dörk et al. 1994b 

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The Database was last updated at Apr 25, 2011