Mutation Details for c.4196_4197delTC

cDNA Name c.4196_4197delTC 
Protein Name p.Cys1400X 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name 4326delTC 
Other Details HGVS nomenclature requires that the last two bases of the repeat are named, rather than the first two: hence 4329_4330, rather than 4326 (and 4327).  
Contributors Bulman M, Brownsell E, Schwarz MJ.   2008-06-25
Submitted Phenotype Details We have seen this mutation in a 10 year-old boy who has F508del on the other chromosome. He is pancreatic insufficient and has a sweat sodium of 103 (chloride not available). 

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The Database was last updated at Apr 25, 2011