Mutation Details for c.3287delT

cDNA Name c.3287delT 
Protein Name p.Leu1096ArgfsX6 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name 3419delT 
Other Details A novel frameshift mutation in exon 17b was idenified in a Greek CF patient who has the [delta]F508 mutation on the other allele. The deletion has been identified by DGGE analysis and direct sequencing. It creates a BstUI recognition site in the exon 17b PCR product and has not been identified in 70 undefined CF chromosomes. 
Contributors Balassopoulou A, Fotaki V   1994-04-20
Institute Laikon General Hospital Athens, Greece 
Submitted Phenotype Details  
Reference Balassopoulou & Fotaki (NL#62) 

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The Database was last updated at Apr 25, 2011