Mutation Details for c.1781T>C

cDNA Name c.1781T>C 
Protein Name p.Leu594Pro 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name L594P 
Other Details The mutation was detected by DHPLC analysis and characterized by sequencing 
Contributors CABET/BEY - OMAR F., PLOYE F., MOREL Y.,   2007-10-15
Institute Lab. Biologie Moleculaire et de Biochimie Endocrinienne Lyon 
Submitted Phenotype Details L594P was found in a boy positive for IRT test at the neonatal screening. His sweat chloride levels ranging from 95 mmol/l. The other mutation is [delta]F508 

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The Database was last updated at Apr 25, 2011