Mutation Details for c.3444C>A

cDNA Name c.3444C>A 
Protein Name p.Asn1148Lys 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name N1148K 
Other Details This mutation was found by DGGE and direct DNA sequencing in a child with bronchiectasis and sweat test borderline. 
Contributors Casals T, Gimenez J, Ramos M D, Estivill X   2000-08-02
Institute CGMM IRO Barcelona, Spain 
Submitted Phenotype Details Patient (F) is 8y, has PS, borderline sweat-chloride levels and bronchiectasis. No other mutation has been found. (Pers. corr. Casals) 
Reference Casals et al. 2000 

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The Database was last updated at Apr 25, 2011