Mutation Details for c.1973_1985del13insAGAAA

cDNA Name c.1973_1985del13insAGAAA 
Protein Name p.Arg658LysfsX4 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2105-2117del13insAGAAA 
Other Details Prenatal diagnosis of a Hispanic CF family with a novel mutation detected by temporal temperature gradient gel electrophoresis. 
Contributors Wang JJ, Wong LJC   2000-01-01
Institute Molecular Diagnostic Laboratory, Institute of Molecular and Human Genetics, Georgetown University Medical Center 
Submitted Phenotype Details Male patient, 12 years of age, with pancreatic insuffuciency, weight loss, nasal polyps, had lung transplant. The other mutant allele is delta F508. 
Reference Prenat. Diagn. 20: 807-810,2000. 

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The Database was last updated at Apr 25, 2011