Mutation Details for c.1714G>A

cDNA Name c.1714G>A 
Protein Name p.Asp572Asn 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name D572N 
Other Details The nucleotide change G->A at nucleotide position 1846 leads to D572N in exon 12. This variation was observed on one CF chromosome in collaboration with Dr Kapranov (Moscow, Russia) 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP, Raguenes O, Guillermit H, Mercier B   1993-06-07
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a Russian CF patient. (pers.corr. Ferec) 
Reference FĂ©rec et al. (NL#59) 

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The Database was last updated at Apr 25, 2011