Mutation Details for c.4241T>C

cDNA Name c.4241T>C 
Protein Name p.Leu1414Ser 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name L1414S 
Other Details The mutation was detected by DGGE analysis and characterized by direct sequencing. We have seen it only once, in over 1700 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 L1414S was found in a 40y old male with CBAVD, poli T 7-9 and carrying deltaF508 on the other allele. The patient and has chronic pancreatitis. 

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The Database was last updated at Apr 25, 2011