Mutation Details for c.278T>A

cDNA Name c.278T>A 
Protein Name p.Val93Asp 
Exon or Intron exon 4 
Other Details Pakistani 
Contributors and Institutes
Martin J Schwarz - St Mary's Manchester, England.
Joanna Brock - St Mary's Manchester, England.
Submitted Phenotype Details High IRT on newborn screening. Two positive sweat tests. 

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The Database was last updated at Apr 25, 2011