Mutation Details for c.3469-2A>G

cDNA Name c.3469-2A>G 
Exon or Intron intron 21 
Legacy Exon or Intron intron 18 
Legacy Name 3601-2A->G 
Other Details  
Contributors    1993-01-01
Submitted Phenotype Details 2 CF patients (twins) homozygous (males, 11) diagnosed at 4 months, PI, FEV1~70%, sweat chloride 80-120 mmol/l. (pers. corr. Doerk) 
Reference Dörk et al. 1993a 

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The Database was last updated at Apr 25, 2011