Mutation Details for c.3468G>A

cDNA Name c.3468G>A 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name 3600G->A 
Other Details There is no change of amino acid at position 1156 (Leu1156) of the CFTR, but it may cause aberrant splicing becuase it affects the exon/intron18 donor pslice sequence (TG/gtaagt -> TA/gtaagt). The 3600G->A transition creates a DdeI restriction site and may be analyzed by digestion with this restriction enzyme. The change was found once in 384 chromosomes (289 CF chromosomes and 95 normal chromosomes) tested and occurred in a PS patient with [delta]F508 mutation on the other CF chromosome. 
Contributors Zielinski J, Markiewicz D, Tsui LC   1993-10-15
Institute Hospital For Sick Children Toronto, Canada 
Submitted Phenotype Details No additional clinical data available. See original note. (pers. corr. Zielenski) 
Reference Zielenski et al. 1994 

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The Database was last updated at Apr 25, 2011