Mutation Details for c.4139delC

cDNA Name c.4139delC 
Protein Name p.Thr1380AsnfsX4 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name 4271delC 
Other Details This frameshift mutation in exon 23 of the CF gene was detected by chemical mismatch analysis of exons 22 + 23 and involves the deletion of base 4217 (4271delC). The mutation is present in conjunction with [delta]F508 on the other chromosome in a British CF patient. It was not found on 70 non-[delta]F508 CF chromosomes.  
Contributors Shackleton S, Harris A   1993-05-11
Institute John Radcliffe Hospital Oxfor UK 
Submitted Phenotype Details The mutation was found in a British CF patient carrying deltaF508 on the other allele. No other clinical details are available. (pers. corr. Harris) 
Reference Shackleton 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.

  • Shackleton S, Hull J, Dear S, Seller A, Thomson A, Harris A   Identification of rare and novel mutations in the CFTR genes of CF patients in southern England.   1994;3(2):141-51

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The Database was last updated at Apr 25, 2011