Mutation Details for c.1680-1G>A

cDNA Name c.1680-1G>A 
Exon or Intron intron 12 
Legacy Exon or Intron intron 11 
Legacy Name 1812-1G->A 
Other Details This mutation has been detected by SSCP analysis, followed by direct sequencing and it can be detected by restriciotn enzyme analysis because is creates a DraI site. Mutation 1812-1G->A was found in 1/50 unrelated Spanish CF non-[delta]F508 chromosomes. The mutation on the other chromosome is 3600-111G->C. 
Contributors Chillon M, Nunes V, Casals T, Estivill X   1993-01-18
Institute Institut de Recerca Oncologica Barcelona, Spain 
Phenotype Information CFTR2
Reference Chill√≥n et al. 1994 

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The Database was last updated at Apr 25, 2011