Mutation Details for c.3822G>A

cDNA Name c.3822G>A 
Protein Name p.Trp1274X 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name W1274X 
Other Details The mutation was detected by multiplex heteroduplex analysis on the MDE gel matrix. It was found in one Candian CF patient (second mutation: [delta]F508); 
Contributors Zielenski J, Tzountzouris J, Sweezey N, Tsui L-C   1999-03-04
Institute The Hospital for Sick Children, Toronto, Canada 
Submitted Phenotype Details The mutation was found in a male CF patient, PI, with mild pulmonary symptoms, sweat chloride 92 mmol/l also carrying deltaF508 on the other allele. (pers. corr. Zielenski) 
Reference Zielenski et al. 1999 

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The Database was last updated at Apr 25, 2011