Mutation Details for c.1648G>T

cDNA Name c.1648G>T 
Protein Name p.Gly550X 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name G550X 
Other Details This nonsense mutation in exon 11 of the CFTR gene was identified in 2 apparently unrelated Dutch CF patients. Both patients have the [delta]F508 mutation on the other allele. G550X (ntG1780T) was detected by SSCP analysis (98 non-[delta]F508 chromosomes) and direct sequencing. The mutation co-inherited with haplotype 2(XV2C)-(KM19). 
Contributors Deiman C, Deelan W, Halley D   1992-02-25
Institute Erasmus Universiteit Rotterdam 
Submitted Phenotype Details  
Reference Deiman et al. (NL#43) 

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The Database was last updated at Apr 25, 2011