Mutation Details for c.1209+6A>G

cDNA Name c.1209+6A>G 
Exon or Intron intron 9 
Legacy Exon or Intron intron 8 
Legacy Name 1341+6 A->G 
Other Details  
Contributors Angius A, Stasi M. Furbetta M.   2007-06-12
Institute Pediatria, Laboratorio di Genetica Moleculare, Universita degli Studi di Perugia, Italy 
Submitted Phenotype Details This mutation was found in an Italian adult patient with idiopatic infertility; moreover detected in a 50 years old Italian man, also carrying R31C, with BPCO, Bronchiectasis, lung infection by Pseudomonas aeruginosa and sweat chloride 36mEq/l. He is PS 

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The Database was last updated at Apr 25, 2011