Mutation Details for c.2562T>G

cDNA Name c.2562T>G 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name 2694T/G 
Other Details no change (Thr at 854) 
Contributors    1991-01-01
Submitted Phenotype Details Patient is 23y, has PS, FEV1=60%, elevated sweat-chloride levels (104mEq/l), Staph. colonisation and aspergillosis. G970D was found on the other allele. (Wagner et al. 1999) 
Reference Zielenski et al. 1991a 

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The Database was last updated at Apr 25, 2011