Mutation Details for c.3368-2A>G

cDNA Name c.3368-2A>G 
Exon or Intron intron 20 
Legacy Exon or Intron intron 17b 
Legacy Name 3500-2A->G 
Other Details The mutation was detected by DGGE and identified by direct sequencing in a Columbian patient. It was not found in 100 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes. 
Contributors Vidaud D, Keyeux G, Bousquet S, Beldjord C, Bienvenu T   1998-05-29
Institute Groupe Hospitalier Cochin Paris, France 
Submitted Phenotype Details  
Reference Vidaud et al. (NL#70) 

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The Database was last updated at Apr 25, 2011