Mutation Details for c.2240_2247delCGATACTG

cDNA Name c.2240_2247delCGATACTG 
Protein Name p.Ile748SerfsX28 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name 2372del8 
Other Details This mutation can be detected by heteroduplex and creates a unique Stu I site giving 2 fragments of 545 and 354 bp, when the PCR product is obtained with 13i 5 and 13i-3A. 
Contributors Chevalier F, Bozon D   1992-12-02
Institute Hopitaux de Lyon  
Submitted Phenotype Details The mutation was found in a classical CF patient (female, 6y); she is PI, has sweat chloride of 120 mmol/l and mild respiratory symptoms. She carries deltaF508 on the other allele. (Chevalier-Porst et al. 1993 and 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