Mutation Details for c.1456G>T

cDNA Name c.1456G>T 
Protein Name p.Gly486X 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name G486X 
Other Details One nine-year old girl, PI, with moderate pulmonary disease carries G486X and [delta]F508 on the other allele. This mutation was found once on 174 non-[delta]F508 chromosomes. 
Contributors Hughes D, Hill A, Graham   1995-01-18
Institute Belfast City Hospital, Northern Ireland 
Submitted Phenotype Details  
Reference Hughes et al. (NL#65) 

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The Database was last updated at Apr 25, 2011