Mutation Details for c.2909-71G>C

cDNA Name c.2909-71G>C 
Exon or Intron intron 17 
Legacy Exon or Intron intron 15 
Legacy Name 3041-71G/C 
Other Details This polymorphism destroys a DdeI site. The consortium primers amplifying the 570 bp caryin exon 16 lead after DdeI digestion to the following fragments for the common allel:123 +66+ 360+21 and 189+360+21 for the rare one. The nucleotide change was found: - once among 74 non-[delta]F508 chromosomes - twice among 44 normal chromosomes - 0 among 36 [delta]F508 chromosomes 
Contributors Ferec C, Guillermit H, Quere I, Verlingue C   1991-09-02
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was found in a Belgian CF patient. No clinical data available.(pers.corr. Ferec)  
Reference FĂ©rec et al. (NL#38) 

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The Database was last updated at Apr 25, 2011