Mutation Details for c.4035_4038dupCCTA

cDNA Name c.4035_4038dupCCTA 
Protein Name p.Ser1347ProfsX13 
Exon or Intron exon 25 
Other Details Father had no CF symptoms 
Contributors and Institutes
Norek A. - Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland
Sobczynska-Tomaszewska A. - Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland
Wertheim K. - Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland
Czerska K. - Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland
Ołtarzewski M. - Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland
Sands D. - Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland
Bal J - Institute of Mother and Child, Department of Medical Genetics, Warsaw, Poland
  
Submitted Phenotype Details This mutation was identified in Polish 26 year old man whose 4 day old child died because of Meconium Ileus. Mother of his child is carrier of the p.F508del allele. No other mutation was found after sequencing of all 27 CFTR exons. 
Reference  

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The Database was last updated at Apr 25, 2011