Mutation Details for c.164+2T>A

cDNA Name c.164+2T>A 
Exon or Intron intron 2 
Legacy Exon or Intron intron 2 
Legacy Name 296+2T->A 
Other Details Mutation is detected by TTGE and confirmed with sequencing. 
Contributors Alper Özgül; Wong LJC, Kharrazi M.,   2003-05-01
Institute Institute for Molecular and Human Genetics, Georgetown University Medical Center  
Submitted Phenotype Details Black siblings, the male sibling was diagnosed at 15 months of age, pancreatic insufficient; sweat chloride level was 87mmol/L ; FEV 77%; FVC 69%; microbial colonization with Pseudomonas auregunisa and Staphylococcus aureus. The other female sibling was diagnosed at 8 days, pancreatic insufficient, sweat chloride level was 103mmol/L, microbial colonization with Staphylococcus aureus.  

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The Database was last updated at Apr 25, 2011