Mutation Details for c.50delT

cDNA Name c.50delT 
Protein Name p.Phe17SerfsX8 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name 182delT 
Other Details This frameshift mutation in exon 1 of the CF gene was first detected by SSCP analysis of a DNA fragment containing the 5' untranslated portion and exon 1 of the CFTR. The mutation involves the deletion of base 182 (182delT). The mutation is present in conjunction with E92K on the other chromosome in a Turkish CF patient. It was not found on 70 non-[delta]F508 CF chromosomes. 
Contributors Shackelton S, Harris A   1993-06-07
Institute University of Oxford Oxford UK 
Submitted Phenotype Details The Turkish Cypriot female CF patientwas diagnosed in infancy. She carries E92K on the other allele. (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