Mutation Details for c.3618_3619delAG

cDNA Name c.3618_3619delAG 
Protein Name p.Gly1208ProfsX56 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3750delAG 
Other Details The deletion was found once while screening exon 19 by DGGE and DNA sequencing out of 28 CF Belgium patients. 
Contributors Quere I, Audrezet MP, Mercier B, Ferec C, Lissens W, Bonduelle M, Liebaers I   1992-02-08
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was found in a Belgian CF patient. (pers.corr. Ferec) 
Reference Mercier et al. 1993a 

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The Database was last updated at Apr 25, 2011