Mutation Details for c.3041A>G

cDNA Name c.3041A>G 
Protein Name p.Tyr1014Cys 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name Y1014C 
Other Details This mutation was found a patient with inconclusive sweat test results. 
Contributors Bozon D   1998-03-19
Institute Hopital Debrousse, Lyon, France 
Submitted Phenotype Details Patient (M) is 3y and has sweat-chloride levels ranging from 55mM/l to 165mM/l. DeltaF508 was found on the other allele. (Pers. corr. Bozon) 
Reference Bozon (NL#70) 

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The Database was last updated at Apr 25, 2011