Mutation Details for c.1153_1154insAT

cDNA Name c.1153_1154insAT 
Protein Name p.Asn386IlefsX3 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name 1288insTA 
Other Details Mutation is detected by TTGE and confirmed with sequencing. 
Contributors Alper Özgül;Wong LJC. Kharrazi M.   2003-06-26
Institute Institute for Molecular and Human Genetics, Georgetown University Medical Center 
Submitted Phenotype Details Hispanic male patient, diagnosed at 2 months of age; pancreatic insufficient, sweat chloride level was 91mmol/L; had elevated liver function and microbial colonization with Pseudomonas auregunisa. Patient is homozygous for this mutation. Another Hispanic male patient heterozygous for this mutation was diagnosed at 8 months of age; sweat chloride level was 97 mmol/L. He was pancreatic insufficient; FEV 88%; FVC 100%. The other mutant allele is unidentified. 
Reference Alper Özgül;Wong LJC. Kharrazi M., 2003 

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The Database was last updated at Apr 25, 2011