Mutation Details for c.1117-30_1117-29delTA

cDNA Name c.1117-30_1117-29delTA 
Exon or Intron intron 8 
Legacy Exon or Intron intron 7 
Legacy Name 1249-30delAT 
Other Details The mutation was detected by heteroduplex analysis. It was found in one Caucasian CF patient. The second mutation: [delta]F508. 
Contributors Zielenski J, Markiewicz D, Tsui L-C, Onay T, Kirdar B   1996-10-07
Institute The Hospital for Sick Children, Toronto, Canada Bogazici University, Istanbul, Turkey 
Submitted Phenotype Details No additional clinical data available. See original note. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#69) 

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The Database was last updated at Apr 25, 2011