Mutation Details for c.3293G>A

cDNA Name c.3293G>A 
Protein Name p.Trp1098X 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name W1098X(TAG) 
Other Details The W1098X mutation has been found in a 18 year old female. She was diagnosed due to steatorrhea at the age of 2 years with sweat chloride concentration of 95mM. She is pancreatic insufficient and has only mild lung disease (FEV1 83%, FVC 96% predicted) recently complicated by Pseudomonas aeruginosa infection. The patient also carries the [delta]F508 mutation. 
Contributors Macek MJr, Davis CL, Hamosh A, Cutting GR   1993-08-04
Institute Center for Medical Genetics Baltimore, MD, USA 
Submitted Phenotype Details The patient(18, female) was diagnosed at 2; sweat chloride 95mM/l. She is pancreatic insufficient and has mild lung disease (FEV1 83%, FVC 96% predicted) complicated by Pseudomonas aeruginosa infection. The patient carries the [delta]F508 mutation on the other allele. (pers. corr. Macek) 
Reference Macek et al. (NL#58) 

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The Database was last updated at Apr 25, 2011