Mutation Details for c.578_579+5delAAGTATG

cDNA Name c.578_579+5delAAGTATG 
Protein Name p.Glu193ValfsX20 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name 710_711+5del7 
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 41 year old male patient with a clinical diagnosis of CF. 4040delA [HGVS c3908del] was detected on the other chromosome. 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