Mutation Details for c.2488A>T

cDNA Name c.2488A>T 
Protein Name p.Lys830X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name K830X 
Other Details A nucleotide change, A->T, was observed in exon 13 at position 2620 leading to K830X. The patient is 3 years old, and pancreatic insufficient. The other chromosome carries a [delta]F508 mutation. This mutation was found once among 28 Belgian CF chromosomes. 
Contributors Lissens W, Bonduelle M, Liebaers I, Ferec C, Quere I, Mercier B, Audrezet MP   1992-05-12
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a Belgian CF patient, PI, carrying deltaF508 on the other allele. (pers.corr. Ferec) 
Reference Mercier et al. 1993a 

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The Database was last updated at Apr 25, 2011