Mutation Details for c.3209G>A

cDNA Name c.3209G>A 
Protein Name p.Arg1070Gln 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name R1070Q 
Other Details This missense mutation was found in one Italian CF patient. The nucleotide change was G->A at position 3341 of exon 17b leading to R 1070 Q amino acid change. It was found once using DGGE screening and DNA sequencing among 50 Italian CF chromosomes. 
Contributors Audrezet MP, Mercier B, Ferec C, Novelli G, Dallapicolla   1992-01-03
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Phenotype Information CFTR2
Reference Mercier et al. 1993b 

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The Database was last updated at Apr 25, 2011