Mutation Details for c.3780_3782delACT

cDNA Name c.3780_3782delACT 
Protein Name p.Leu1261del 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name [delta]L1260 
Other Details This mutation in exon o20 was found in one Dutch patient with CF. This patient has the [delta]F508 mutation on the other allele. This mutation was detected by SSCP analysis (148 non-[delta]F508 chromosomes) and identified by direct sequencing. The detected mutation represents a deletion of threee nucleotides ACT. Whether the ACT is deleted at position 3909 or at position 3912 is unclear. The mutation results in a deletion of one of the leucines at position 1260 or at position 1261. 
Contributors Hermans C, Halley D, Ouwelan Avd   1993-11-16
Institute Erasmus Universiteit Rotterdam The Netherlands 
Submitted Phenotype Details  
Reference Hermans et al. 1994 

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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.

  • Hermans CJ, Veeze HJ, Drexhage VR, Halley DJ, van den Ouweland AM   Identification of the L927P and delta L1260 mutations in the CFTR gene.   1994 007;3(7):1199-200

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The Database was last updated at Apr 25, 2011