Mutation Details for c.1063C>T

cDNA Name c.1063C>T 
Protein Name p.Pro355Ser 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name P355S  
Other Details The mutation was detected by DGGE analysis and characterised by direct sequencing. We have seen it only once, in over 2500 control chromosomes from Italian population.  
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-07-05
Institute Lab. Genetica Molecolare Dip Pediatria, Padova,Italy 
Submitted Phenotype Details The mutation was found in a North-Est Italian (female 3y) carrying 1717-1 G->A on the other allele, no lung disease, sweat chloride 47 mmol/l . 

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The Database was last updated at Apr 25, 2011