Mutation Details for c.1786_1787delGC

cDNA Name c.1786_1787delGC 
Protein Name p.Ala596X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 1918delGC 
Other Details This mutation was found on one French CF chromosome out of 1100 studied. The patient has a [delta]F508 on the other CF chromosome. 
Contributors Chevalier F, Bozon D   1992-12-12
Institute Hopitaux de Lyon 
Submitted Phenotype Details The mutation was found in one male patient (1 year old) diagnosed at birth with classical CF, presenting with meconium ileus. He is PI, has sweat chloride 125 mmol/l and carries deltaF508 on the other allele. (pers. corr. Bozon and Chevalier-Porst et al. 1993) 
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