Mutation Details for c.387delT

cDNA Name c.387delT 
Protein Name p.Leu130SerfsX? 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 519delT 
Other Details This change has been detected by SSCP/HD analysis and direct sequencing in one Spanish CF allele 
Contributors J. Gimenez, MD. Ramos, H. Escobar, T. Casals   2004-12-29
Institute CGMM-IRO. Barcelona. Spain Hospital Ramon y Cajal. Madrid. Spain  
Submitted Phenotype Details This CF patient presents the genotype [F508del] + [519delT]. (pers. corr. T. Casals 

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The Database was last updated at Apr 25, 2011