Mutation Details for c.54-1G>A

cDNA Name c.54-1G>A 
Exon or Intron intron 1 
Other Details In trans with F508del 
Contributors and Institutes
Martin Schwarz - Genetic Medicine, St Mary’s Hospital Manchester
Brock JL - St Mary’s Hospital Manchester
Mike Bulman - St Mary’s Hospital Manchester
Chris Charlton - St Mary’s Hospital Manchester
Megan Adaway - St Mary’s Hospital Manchester
  
Submitted Phenotype Details Positive sweat test (Na 107; Cl 108); panc sufficient; Ps aeruginosa and MRSA in sputum 
Reference  

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The Database was last updated at Apr 25, 2011