Mutation Details for c.3476C>A

cDNA Name c.3476C>A 
Protein Name p.Ser1159Tyr 
Exon or Intron exon 22 
Other Details Detection by sequencing the CFTR gene  
Contributors and Institutes
Dr. R. Maiwald - Laboratory Dr. Reising-Ackermann, Leipzig, Germany
Dr. B. Thamm-Mücke - Laboratory Dr. Reising-Ackermann, Leipzig, Germany
  
Submitted Phenotype Details Asymptomatic female. Heterozygositiy screening was performed since her partner is ΔF508 heterozygous. He was screened for CFTR mutations due to azoospermia 
Reference  

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The Database was last updated at Apr 25, 2011