Mutation Details for c.1343T>G

cDNA Name c.1343T>G 
Protein Name p.Ile448Arg 
Exon or Intron exon 10 
Other Details Mutation detected by DGGE and sequencing. No other mutation was found 
Contributors and Institutes
Javier Gimenez, Loli Ramos, Teresa Casals (CGMM-IDIBELL) - Lucrecia Suarez, Adelaida Lamas (CF Unit, Hospital Ramon y Cajal)
Submitted Phenotype Details The mutation was found in a Spanish newborn by neonatal hypertrypsinemia and hyponatremia. Sweat chloride 100mmol/L 

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The Database was last updated at Apr 25, 2011