Mutation Details for c.410T>C

cDNA Name c.410T>C 
Protein Name p.Leu137Pro 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name L137P 
Other Details The sequence alteration above was found once in 500 chromosomes screened. 
Contributors Tzetis M, Antoniadi Th, Kanavakis E   1996-02-21
Institute First Department of Pediatrics, Athens University, Greece 
Submitted Phenotype Details The 5 years old female patient was diagnosed at 5 months of age, with dehydration, is PS, has sweat chloride 90 mmol/l. She carries G542X on the other allele. (pers. corr. Tzetis) 
Reference Tzetis et al. (NL#68) 

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The Database was last updated at Apr 25, 2011