Mutation Details for c.79G>T

cDNA Name c.79G>T 
Protein Name p.Gly27X 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name G27X 
Other Details This mutation, in exon 2 of the CF gene, was detected by SSCP analysis and involves a G->T substitution at base 211. This predicts a glycine to stop mutation at amino acid 27. The mutation is present in conjunction with [delta]F508 on the other chromosome in a patient of UK origin with classical CF. It was not found on 78 non-[delta]F508 CF chromosomes 
Contributors Shackleton S, Harris A   1992-04-04
Institute John Radcliffe Hospital Oxford 
Submitted Phenotype Details The female patient was diagnosed in infancy, is PI and has moderate pulmonary symptoms. She carries deltaF508 on the other allele. (pers. corr. Harris) 
Reference Shackleton & Harris, 1992 

To check if there are any papers published about this mutation/variant on PubMed, please click here.
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, Harris A   G27X: a novel mutation in exon 2 of the CF gene.   1992 009;1(6):445
  • 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

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011