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. 

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The Database was last updated at Apr 25, 2011