Mutation Details for c.3963+1G>C

cDNA Name c.3963+1G>C 
Exon or Intron intron 24 
Legacy Exon or Intron intron 21 
Legacy Name 4095+1G>C 
Other Details The mutation was identified in trans of deltaF508 in an infant who was diagnosed with CF based on neonatal screening results (IRT 252 microg/L and sweat chloride 100 mEq/L). It was inherited from the mother, who is from Africa  
Contributors E. Girodon, C. Costa, M. Goossens   2006-08-25
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details The child is still asymptomatic. 

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The Database was last updated at Apr 25, 2011