Mutation Details for c.274-2A>G

cDNA Name c.274-2A>G 
Exon or Intron intron 3 
Legacy Exon or Intron intron 3 
Legacy Name 406-2A->G 
Other Details Splice mutation 406-2 A->G was detected in a homozygous CF patient from the United Arabian Emirates. 
Contributors Dörk T, El-Harith E-H, Ellemunter H, Schmidtke J, Stuhrmann M   1996-08-13
Institute Institut fur Humangenetik, Medezinische Hochschule Hannover, Hannover, Germany. 
Submitted Phenotype Details One homozygous for 406-2A->G CF patient (female, 1y8m) was diagnosed at birth, with meconium ileus. She is PI and has sweat chloride of 90 mmol/l.(El-Harith et all 1997 and pers. corr. Doerk) 406-2A->G was found in a 14y male diagnosed at <9y with DIOS. He has mild pulmonary symptoms and carries deltaF508 on the other allele.(pers. corr. Girodon) 
Reference Dörk et al. (NL#69) 

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The Database was last updated at Apr 25, 2011