Mutation Details for c.438_440delTCA

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

cDNA Name c.438_440delTCA 
Protein Name p.His147del 
Exon or Intron  
Other Details  
Contributors and Institutes
unknown - unknown
Submitted Phenotype Details Identified by abnormal newborn screen - IRT of 377.6 ng/ml. Sweat chloride 92 mmol/L. Severe exocrine pancreatic insufficiency - 19 ug/g. Grew Pseudomonas on culture at two months of age. 

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The Database was last updated at Apr 25, 2011