Mutation Details for c.2252G>T

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.2252G>T 
Protein Name p.Arg751Leu 
Exon or Intron  
Other Details p.Phe508del (c.1521_1523delCTT) in trans 
Contributors and Institutes error reading database  
Submitted Phenotype Details Infant, diagnosed on Newborn Screening. Probably pancreatic insufficient (malabsorption). Sweat chloride 73.  

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The Database was last updated at Apr 25, 2011