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.
Reference
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The Database was last updated at Apr 25, 2011
