Mutation Details for c.2145_2146delAAinsGT

cDNA Name c.2145_2146delAAinsGT 
Protein Name p.Lys716X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name K716X 
Other Details This variation was found on one French chromosome. 
Contributors Ferec C, Quere I, Verlingue C, Mercier B, Audrezet MP, Guillermit H   1992-06-12
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was found associated with Q715Q in a French male CF patient carrying deltaF508 on the other allele.(pers.corr. Ferec) 
Reference Audr├ęzet et al. 1993a 

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The Database was last updated at Apr 25, 2011