Mutation Details for c.2380delG

cDNA Name c.2380delG 
Protein Name p.Val794CysfsX9 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2512delG  
Other Details  
Contributors Bulman M, Brownsell E, Schwarz MJ.   2008-07-24
Institute Regional Molecular Genetics Laboratory St Mary’s Hospital, Manchester, England 
Submitted Phenotype Details Patient presented at 11 years of age.F508del was detected on the other chromosome.Patient is also heterozygous for the R297Q CF variant.No other sequence changes were found after sequencing the entire coding region of the gene.  

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The Database was last updated at Apr 25, 2011