Mutation Details for c.40A>T

cDNA Name c.40A>T 
Protein Name p.Lys14X 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name K14X 
Other Details This French patient, 20 years old, is a compound heterozygote carrying a missense mutation, G1061R, on the other chromosome. 
Contributors Ferec C, Verlingue C, Quere I, Raguenes O, Audrezet MP, Guillermit H, Mercier B   1993-07-08
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The French CF patient (male, 29y) carries G1061R on the other allele. (pers. corr. Ferec) 
Reference FĂ©rec et al. (NL#56) 

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The Database was last updated at Apr 25, 2011