Mutation Details for c.1986_1989delAACT

cDNA Name c.1986_1989delAACT 
Protein Name p.Thr663ArgfsX8 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2118del4 
Other Details This mutation was found on one French CF chromosome out of 1100 studied. The patient also has a deletion in exon 13 on her other CF chromosome: 1949del84. 
Contributors Chevalier F, Bozon D   1992-12-12
Institute Hopitaux de Lyon 
Submitted Phenotype Details The mutation was identified in a female patient (13y) carrying 1949del84 on the other allele. (pers. corr. Bozon) 
Reference Chevalier et al. 1993 

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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.

  • Chevalier-Porst F, Mathieu M, Bozon D   Identification of three rare frameshift mutations in exon 13 of the cystic fibrosis gene: 1918delGC, 2118del4 and 2372del8.   1993 007;2(7):1071-2

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The Database was last updated at Apr 25, 2011