Mutation Details for c.1546A>G

cDNA Name c.1546A>G 
Protein Name p.Arg516Gly 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name R516G 
Other Details  
Contributors Arduino C.   2002-01-01
Institute Servizio di Genetica Medica, Torino, Italy  
Submitted Phenotype Details The female CF patient (20 years old) was diagnosed at 14y. She is PS, sweat chloride was 114 mmol/l and FEV1 61%. She has bronchiectasis. She carries deltaF508 on the other allele. (pers. corr. Arduino) 

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The Database was last updated at Apr 25, 2011