Mutation Details for c.164+12T>C

cDNA Name c.164+12T>C 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 296+12T->C 
Other Details We don't know if this mutation disrupts the splice site in intron 2. It does not create a splice reocgnition site. The mutation was found in a consanguineous Pakistani family. AS the CF patient already died, only a small amount of DNA was available for investigation. For this reason we first analyzed the complete coding region and the exon/intron junctions of the CFTR genes of the mother of this CF patient by means of direct automatic sequencing. The 296+12T->C mutation was the only mutation that we found besides some known polymorphisms. Subsequently, we identified this mutation in the father who was heterozygous and in the CF patient who was homozygous for this mutation. 
Contributors Cuppens H, Marynen P, Cassiman JJ Schwarz M, Malone G, Super M   1993-02-18
Institute University of Leuven Leuven, Belgium Royal Manchester Children's Hospital Manchester, England 
Submitted Phenotype Details This homozygous CF patient has died. (pers. corr. De Boeck) 
Reference Cuppens et al. (NL#53) 

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The Database was last updated at Apr 25, 2011