Mutation Details for c.3140-1G>A

cDNA Name c.3140-1G>A 
Exon or Intron intron 19 
Legacy Exon or Intron intron 17a 
Legacy Name 3272-1G->A 
Other Details This mutation was found in two CF patients originating from Belgium. The two mutations have been found on one CF chromosomes after DGGE screening and DNA sequencing. The first is a nucleotide change at the 5' splice site consensus sequence (3272-1 G->A). The second is a nucleotide change at position 3286 T->G leading to F1052V amino acid change. 
Contributors Lissens W, Bonduelle M, Liebaers I Audrezet MP, Mercier B, Ferec C   1992-01-03
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a Belgian CF patient.No clinical data available. (pers. corr. Ferec) 
Reference Mercier et al. 1993b 

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The Database was last updated at Apr 25, 2011