Mutation Details for c.52A>G

cDNA Name c.52A>G 
Protein Name p.Ser18Gly 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name S18G 
Other Details The mutation was detected by DGGE analysis and characterised by direct sequencing. We have seen it only twice, in over 4000 non-[delta]F508 chromosomes screened.  
Contributors Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.   2006-04-03
Institute Lab. Genetica Molecolare Dip Pediatria, Padova,Italy 
Submitted Phenotype Details Patient a: This individual (M) from from Southern Italy is 30y and is NOT a CF patient, his wife is deltaF508/ N. No other mutation was found. Patient b: The mutation was found in a North Italian (male) diagnosed at 5 years, having sweat chloride 47 mmol/l and with no respiratory symptoms , the pancreatic status (sufficient/nonsufficient) is unknown. He carries 125 g/c on the other allele. 

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The Database was last updated at Apr 25, 2011