Mutation Details for c.4056G>T

cDNA Name c.4056G>T 
Protein Name p.Gln1352His 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name Q1352H(G->T) 
Other Details This change has been detected by SSCP/HD analysis and direct sequencing in one Spanish chromosome 
Contributors Contributors MD. Ramos, J. Gimenez, T. Casals   2004-12-29
Institute CGMM-IRO. Barcelona. Spain 
Submitted Phenotype Details Male newborn with hypertrypsinemia. He presents the genotype [R117H] + [Q1352H (G>T)] and the I807M change without defined phase. (pers. corr. T. Casals) 

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The Database was last updated at Apr 25, 2011