Mutation Details for c.4439T>C

cDNA Name c.4439T>C 
Protein Name p.Leu1480Pro 
Exon or Intron exon 27 
Legacy Exon or Intron exon 24 
Legacy Name L1480P 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only twice, in over 2000 control chromosomes from Italian population.  
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-11
Institute Lab. Genetica Molecolare Dip Pediatria, Padova,Italy 
Submitted Phenotype Details The mutation was identified in suspect CF Italian patient (male, 40y). The patient had borderline sweat test with recurrent pancreatitis. He carries R553X on the other allele. 
Reference  

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The Database was last updated at Apr 25, 2011