Mutation Details for c.653T>A

cDNA Name c.653T>A 
Protein Name p.Leu218X 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name L218X 
Other Details The mutation was detected by heteroduplex analysis. It was found in a Pakistani CF patient. The second mutation: unknown. 
Contributors Zielenski J, Markiewicz D, Tsui L-C   1996-10-07
Institute The Hospital for Sick Children, Toronto, Canada 
Submitted Phenotype Details The homozygous CF patient is PI, with sweat chloride >100 mmol/l. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#69) 

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The Database was last updated at Apr 25, 2011