Mutation Details for c.2978A>G

cDNA Name c.2978A>G 
Protein Name p.Asp993Gly 
Exon or Intron exon 18 
Legacy Exon or Intron exon 16 
Legacy Name D993G 
Other Details The mutation was detected by DHPLC analysis and characterized by direct sequencing 
Contributors CABET/BEY-OMAR F. , PLOYE F., MOREL Y.,   2007-03-14
Institute Lab de Biologie Moleculaire et Endocrinienne Lyon France 
Submitted Phenotype Details D993G was identified in a 20 year-old female with moderate pulmonary symptoms (Staphylococcus infections), PS, negative sweat chloride. An episode of pancreatitis in childhood(9y) deltaF508 was found on the other allele. 

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The Database was last updated at Apr 25, 2011