Mutation Details for c.741C>G

cDNA Name c.741C>G 
Protein Name p.Tyr247X 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name Y247X 
Other Details Y247X was detected by DGGE and confirmed by direct sequencing. It was found in a CF adult, currently 21 years old, of Greek origin out of 472 CF alleles tested. The patient's other CF allele is [delta]F508. The patient has pancreatic insufficient since birth sweat chloride of 81.2 mEq/L, chronic cough and obstructive lung disease. 
Contributors Tzetis M, Antoniadi T, Kanavakis E   1995-05-30
Institute Athens University First Dept. of Pediatrics 
Submitted Phenotype Details The mutation was identified in a 22 years old male patient PI, FEV1 39% (obstructive lung disease and cough), sweat 81.2 mmol/l, also carrying deltaF508 on the other allele.(Tzetis et al. 1997) 
Reference Tzetis et al. (NL#66) 

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The Database was last updated at Apr 25, 2011