Mutation Details for c.3041_3042delAC

cDNA Name c.3041_3042delAC 
Protein Name p.Ile1015LeufsX31 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3173delAC 
Other Details The mutation was detected by heteroduplex analysis. It was found in a Turkish CF patient. The second mutation: F1052V. Clinical symptoms: elevated sweat Cl-, liver cirrhosis. 
Contributors Onay T, Kirdar B, Zielenski J, Markiewicz D, Tsui L-C   1996-10-07
Institute Bogazici University, Istanbul, Turkey The Hospital for Sick Children, Toronto, Canada 
Submitted Phenotype Details The mutation was identified in a patient with liver cirrhosis and elevated sweat chloride carrying F1052V on the other allele.(Onay et al. 1998) 
Reference Onay et al. (NL#69) 

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The Database was last updated at Apr 25, 2011