Mutation Details for c.2062A>T

cDNA Name c.2062A>T 
Protein Name p.Lys688X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name K688X 
Other Details This mutation has been identified in a Spanish child from the Neonatal Screening Programme 
Contributors J. Gimenez, M.D. Ramos, T. Casals   2006-08-30
Institute CGMM-IRO 
Submitted Phenotype Details The patient (male, 1y) presents positive sweat test, pancreatic insufficiency and the genotype [G542X] + [K688X]. 

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The Database was last updated at Apr 25, 2011