Mutation Details for c.2490+1G>A

cDNA Name c.2490+1G>A 
Exon or Intron intron 14 
Legacy Exon or Intron intron 13 
Legacy Name 2622+1G->A 
Other Details A nucleotide change, G->A at position 2622+1 was detected in exon 13 by DGGE and direct sequencing. The patient is 2 years old and pancreatic sufficient. 
Contributors Ferec C, Quere I, Verlingue C, Mercier B, Audrezet MP, Guillermit H   1992-05-14
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Phenotype Information CFTR2
Reference Audr├ęzet et al. 1993a 

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The Database was last updated at Apr 25, 2011