Mutation Details for c.1703T>A

cDNA Name c.1703T>A 
Protein Name p.Leu568X 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name L568X 
Other Details The L568X mutation has been observed in a 9 month old Vietnamese patient who presented with bronchiolitis and pneumonia. His sweat chloride concentrations were repeatedly above 90 mM. No other clinical information is available to us. 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 One patient (male,2y) was diagnosed at 3 mths. He is PI, has moderate lung disease (bronchiolitis, pneumonia) and a sweat chloride of 109 mmol/l. He carries DelF508 on the other allele. (Macek et all 1997 and pers. corr. Macek) 
Reference Macek et al. (NL#58) 

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The Database was last updated at Apr 25, 2011