Mutation Details for c.3717G>C

cDNA Name c.3717G>C 
Protein Name p.Arg1239Ser 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name R1239S 
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 Two month year old child with raised IRT on CF newborn screening programme and tested heterozygous for F508del at this stage. She was subsequently shown to have a positive sweat test (sweat chloride 86mMol/L).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