Mutation Details for c.4004T>C

cDNA Name c.4004T>C 
Protein Name p.Leu1335Pro 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name L1335P 
Other Details The mutation was detected by heteroduplex analysis and direct sequencing in two CF patients carrying [delta]F508 on their other CF chromosome. 
Contributors Zielenski J, Tzountzouris J, Tsui L-C   1997-08-12
Institute The Hospital for Sick Children, Toronto, Canada 
Submitted Phenotype Details The female CF patient is PS with sweat chloride >80 mmol/l. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#70) 

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The Database was last updated at Apr 25, 2011