Mutation Details for c.3728_3758del

cDNA Name c.3728_3758del 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name 3860ins31 
Other Details This mutation has been detected by SSCP analysis, followed by direct sequencing. Mutation 3860ins31 was found in 1 out of 320 unrelated Spanish CF non-[delta]F508 chromosomes. The mutation on the other chromosome is unknown. 
Contributors Chillon M, Nunes V, Casals T, Estivill X   1992-08-17
Institute Institut de Recerca Oncologica Barcelona, Spain 
Submitted Phenotype Details  
Reference Chill√≥n et al. 1993a 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Chillon M, Casals T, Nunes V, Gimenez J, Estivill X   Identification of a 31-bp insertion (3860ins31) in exon 20 of the cystic fibrosis (CFTR) gene.   1993 008;2(8):1317-8




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The Database was last updated at Apr 25, 2011