Mutation Details for c.1841A>G

cDNA Name c.1841A>G 
Protein Name p.Asp614Gly 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name D614G 
Other Details This mutation, found in exon 13 of a CF patient from Italian origin, was observed once while screening 56 Italian CF chromosomes. The mutated sequence was detected using DGGE and DNA sequencing. 
Contributors Mecier B, Audrezet MP, Ferec C, Novelli G, Dallapicolla B   1992-04-10
Institute Centre Departemental de Transfusion Sanguine Brest, France 
Phenotype Information CFTR2
Reference Audr├ęzet et al. 1993b 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

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The Database was last updated at Apr 25, 2011