Mutation Details for c.325T>C

cDNA Name c.325T>C 
Protein Name p.Tyr109His 
Exon or Intron exon 4 
Other Details Alonso MJ; Izquierdo I; 
Contributors and Institutes
Alonso MJ - University of Valladolid-IBGM
Izquierdo I - University of Valladolid-IBGM
Teleria J - University of Valladolid-IBGM
Fernandez I - University of Valladolid-IBGM
Submitted Phenotype Details The patient is a one year old boy diagnosed of CF on neonatal screening :IRT positive and compound heterozygote with F508del mutation. The sweat test was also positive more than three times. At this moment he remains PS and assymptomatic. 

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The Database was last updated at Apr 25, 2011