Mutation Details for c.579+5G>A

cDNA Name c.579+5G>A 
Exon or Intron intron 5 
Legacy Exon or Intron intron 5 
Legacy Name 711+5G->A 
Other Details A new splicing mutation at the exon/intron 5 junction of the CFTR gene was identified. The mutation 711+5G->A could be detected by restriction enzyme analysis since it destroys a Rsa I restriction site. It was found in 6 out of 225 CF chromosomes so far analyzed. 
Contributors Gasparini P< Bisceglia L, Savoia A, Zelante L   1993-05-18
Institute Istituto di Ricovero e Cura a Carattere Scientifico 
Phenotype Information CFTR2
Reference Bisceglia et al. 1994 

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The Database was last updated at Apr 25, 2011