Mutation Details for c.4003C>T

cDNA Name c.4003C>T 
Protein Name p.Leu1335Phe 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name L1335F 
Other Details We have scanned the entire coding sequences of the CF gene with DHPLC and have seen it only once, in over 2500 control chromosomes from Italian population. 
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-18
Institute Lab. Genetica Molecolare Dip Pediatria, Padova,Italy 
Submitted Phenotype Details The patient (M, 5y) has borderline sweat test, no others clinical data available, his father is CBAVD with G542X mutation.  

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The Database was last updated at Apr 25, 2011