Mutation Details for c.580G>A

cDNA Name c.580G>A 
Protein Name p.Gly194Arg 
Exon or Intron exon 6 
Legacy Exon or Intron exon 6a 
Legacy Name G194R 
Other Details Ambry test result also indicate 1341+1 G to A on intron 8 and heterozygous presence of a 5T variant in intron 8. 
Contributors Gulnur Com   2005-11-03
Institute Pediatric Pulmonology, Children's Hospital , university of Alabama, USA 
Submitted Phenotype Details The initial pancreatic lipase levels of the individual (4-month-old African American) were abnormal. His tracheal aspiration culture grew Xanthomonas maltophilia. Two sweat chloride test done showed values between 40 to 60mmol/L. While his stool elastase-1 was normal lipase levels were continuously elevated.  

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The Database was last updated at Apr 25, 2011