Mutation Details for c.2157_2163delinsGT

cDNA Name c.2157_2163delinsGT 
Protein Name p.Gln720MetfsX11 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2289-2295del7bpinsGT 
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 Hispanic male patient, diagnosed at 22 months of age, pancreatic insufficient with sinusitis, sweat chloride level of 104mmol/L, FEV 57%, FVC 74 %, colonized with Pseudomonas aeruginosa. The other mutant allele is deltaF508. 

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The Database was last updated at Apr 25, 2011