Mutation Details for c.3443A>G

cDNA Name c.3443A>G 
Protein Name p.Asn1148Ser 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name N1148S 
Other Details  
Contributors Pasquet M.C., Baudis M., Gambert C., Kitzis A.   2003-12-17
Institute Laboratoire de GŽnŽtique Cellulaire et MolŽculaire, CHU de Poitiers, France 
Submitted Phenotype Details The N1148S mutation was detected in CFTR gene by DHPLC and identified by direct sequencing. This mutation is associated with F508del on the some chromosome. It was diagnosed in a child with severe CF. One allele carries F508del and N1148S, the other one carries G85E. 

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The Database was last updated at Apr 25, 2011