Mutation Details for c.1680-136A>G

cDNA Name c.1680-136A>G 
Exon or Intron intron 12 
Legacy Exon or Intron intron 11 
Legacy Name 1812-136T/C 
Other Details The polymorphism was found in the CFTR gene by direct sequencing*. (curator's note: the original submission reports T>C change however, the refence sequence reads A, therefore possible incorrect orientation if sequence direction might have caused the discrepancy) 
Contributors Michel-Calemard L, Bey Omar F, Morel Y   1996-07-10
Institute Service de Biochimie Endocrinienne et Mol├ęculaire, Hopital Debrousse 
Submitted Phenotype Details  
Reference Michel-Calemard et al. (NL#69) 

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The Database was last updated at Apr 25, 2011