Mutation Details for c.2491-11C>T

cDNA Name c.2491-11C>T 
Exon or Intron intron 14 
Legacy Exon or Intron intron 13 
Legacy Name 2623-11 C->T 
Other Details The variation was identified in a CF patient who was also heterozygous for deltaF508 and W1204X. Segregation analysis was not performed yet. As 2623-11C>T may not alter the polypyrimidin acceptor splice site of intron 13, we suggest to consider it as a polymorphism.  
Contributors E. Girodon, C. Costa, M. Goossens   2006-08-25
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details Classical CF 

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The Database was last updated at Apr 25, 2011