Mutation Details for c.2679G>T

cDNA Name c.2679G>T 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name 2811G/T 
Other Details This mutation was identified, by D-HPLC and direct DNA sequencing 
Contributors Bonizzato A.   2006-12-11
Institute Laboratorio Analisi Chimico-cliniche ed Ematologiche, Ospedale Civile Maggiore - Verona, Italy. 
Submitted Phenotype Details The patient (female, 45 y) was diagnosed when 38 years old and presents an atypical CF phenotype with PS. The other CF chromosome carries the G542X mutation. 
Reference  

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The Database was last updated at Apr 25, 2011