Mutation Details for c.3139+1G>A

cDNA Name c.3139+1G>A 
Exon or Intron intron 19 
Legacy Exon or Intron intron 17a 
Legacy Name 3271+1G->A 
Other Details A splice mutation was identified in intron 17a. The second chromosome carries a [delta]F508 mutation. The patient is of French origin, 10 years old, and pancreatic insufficient. 
Contributors Ferec C, Quere I, Audrezet MP, Verlingue C, Raguenes O, Guillermit H, Mercier B   1993-02-19
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was found in a French CF patient (female) wyho is PI and carries deltaF508 on the other allele. (pers.corr. Ferec) 
Reference Mercier et al. 1994 

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The Database was last updated at Apr 25, 2011