Mutation Details for c.2126G>A

cDNA Name c.2126G>A 
Protein Name p.Arg709Gln 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name R709Q 
Other Details  
Contributors Wagner K.   2002-01-01
Institute University of Graz Inst. Med. Biology & Human Genetics Graz Austria 
Submitted Phenotype Details The mutation was identified in 2 patients, both females carrying deltaF508 on the other allele. One was diagnosed at 5 months of age and had positive sweat chloride, and the other was diagnosed with CF at the age of 20. (pers corr. Wagner) 

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The Database was last updated at Apr 25, 2011