Mutation Details for c.1826A>T

cDNA Name c.1826A>T 
Protein Name p.His609Leu 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name H609L 
Other Details This mutation was identified on one Italian CF chromosome 
Contributors S. Petrocchi, S. Russo, M.R. D?Apice, P. Piermattei, G. Novelli   2006-07-05
Institute Tor Vergata University, Dept of Biopathology, Rome Italy A.O.U. Ospedali Riuniti Umberto I - GM Lancisi ? G.Salesi, Ancona, Italy  
Submitted Phenotype Details The individual (female, 1y) was suspected since the birth. Neonatal IRT screening is positive. She has sweat-chloride levels ranging from 55mM/l to 69mM/l. She has 4016insT on the other chromosome.  

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The Database was last updated at Apr 25, 2011