Mutation Details for c.2276_2277delCC

cDNA Name c.2276_2277delCC 
Protein Name p.Pro759HisfsX19 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2406delCC 
Other Details This mutation was identified, by D-HPLC and direct DNA sequencing in a CF patient from Sardinia. 
Contributors Bonizzato A.   2006-12-11
Institute Laboratorio Analisi Chimico-cliniche ed Ematologiche, Ospedale Civile Maggiore - Verona, Italy. 
Submitted Phenotype Details The patient (female, 31 y) was diagnosed when 11 years old and presents a CF phenotype with PS. The other CF chromosome carries the 2789+5G>A mutation. 

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The Database was last updated at Apr 25, 2011