Mutation Details for c.3497T>G

cDNA Name c.3497T>G 
Protein Name p.Phe1166Cys 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name F1166C 
Other Details This possible mutation was found by DGGE and identified by DNA sequencing in a CF patient from Tunisia. 
Contributors Fattoum S.,Messaoud T.,Belhadj Frej S.,Ghrab E.   2003-08-23
Institute Laboratoire de Biochimie et Biologie moleculaire Hôpital d'Enfants Tunis 
Submitted Phenotype Details The patient is a newborn girl of 45 day-old who presented with meconium ileus. She carries this mutation on one chromosome. The other CF mutation was unknown. The F1166C was also detected in one of her parents. 

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The Database was last updated at Apr 25, 2011