Mutation Details for c.3700A>C

cDNA Name c.3700A>C 
Protein Name p.Ile1234Leu 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name I1234L 
Other Details The polymorphism was identified by DGGE and direct sequencing of a carrier mother. Since it was not detected in her affected child, we concluded that it was a polymorphism. 
Contributors Férec C, Verlingue C, Mercier B, Quere I   1996-09-05
Institute Laboratoire de Biogénétique, Brest, France 
Submitted Phenotype Details The mutation was found in a CF suspected individual with sweat chloride 90 mmol/l. (pers. corr. Ferec) 
Reference Férec et al. (NL#69) 

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The Database was last updated at Apr 25, 2011