Mutation Details for c.343_345del

cDNA Name c.343_345del 
Protein Name p.Glu115del 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name [delta]E115 
Other Details A new mutation was found in exon 4 of the CFTR gene. The change is a 3-bp deletion from nucleotide 475 to 477 causing the loss of a glutamic acid. The [delta]E115 mutation was detected by SSCp analysis and further confirmed by direct sequencing in both directions. This mutation was found in 1 CBAVD-non CF individual. 
Contributors Chillon M, Casals T, Nunes V, Gimenez J, Ramos D, Estivill X   1994-02-07
Institute Instituto de Investigacion Oncologica  
Submitted Phenotype Details The patient (male, 32y) was diagnosed with CBAVD. His sweat chloride was 74 mmol/l and he carries S50P on the other allele. (pers corr. Casals) 
Reference Chill√≥n et al. 1995 (NL#61) 

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The Database was last updated at Apr 25, 2011