Mutation Details for c.3779T>G

cDNA Name c.3779T>G 
Protein Name p.Leu1260Arg 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name L1260R 
Other Details  
Contributors Seia M.,Padoan R.   2002-01-01
Institute Lab. Genetica Molecolare, Centro Fibrosi Cistica, ICP e Universit√† degli Studi, Italy 
Submitted Phenotype Details The mutation was identified in a patient (female, 26 years old) diagnosed at 2years and 6months of age. She is PI, has milf pulmonary symptoms (FEV1 113%) and sweat chloride 97 mmol/l. She carries deltaF508 on the other allele. (pers.corr. Padoan) 
Reference  

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The Database was last updated at Apr 25, 2011