Mutation Details for c.3084G>T

cDNA Name c.3084G>T 
Protein Name p.Met1028Ile 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name M1028I 
Other Details The mutation was detected by heteroduplex analysis. It was found in a Turkish CF patient. The second mutation: unknown. Clinical symptoms: high sweat Cl-, malabsorbtion, gastrointestinal symptoms. 
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 found in a 7 years old CF Turkish patient who is PI, and has high sweat chloride. (Onay et al. 1998) 
Reference Onay et al. (NL#69) 

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The Database was last updated at Apr 25, 2011