Mutation Details for c.419C>T

cDNA Name c.419C>T 
Protein Name p.Pro140Leu 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name P140L 
Other Details This mutation was detected by DGGE and direct sequencing. P140L was found once (1/ 500 chromosomes) in a male CF patient of Greek origin; he presented with meconium at birth, PS and mild bronchitis.  
Contributors Tzetis M, Antoniadi Th, Kanavakis E   1998-02-02
Institute St. Sophia's Children's Hospital, Athens, Greece 
Submitted Phenotype Details Patient (M) is 7y, has PS, mild lung disease and borderline sweat-chloride levels. He had Meconium Ileus at birth and has recurrent bronchitis. The other mutation is unknown. (Pers. corr. Tzetis) 
Reference Tzetis et al. (NL#70) 

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The Database was last updated at Apr 25, 2011