Mutation Details for c.3139+181t>A

cDNA Name c.3139+181t>A 
Exon or Intron  
Other Details  
Contributors and Institutes
Dr. Christofer Konialis, - InterGenetics-Diagnostic Genetics Centre, Athens, Greece
Submitted Phenotype Details Identified in a 10 month old Greek boy with a reported positive sweat chloride test and very mild symptoms. No other substitution or deletion was identified by complete gene sequencing and MLPA 

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The Database was last updated at Apr 25, 2011