Mutation Details for c.2158C>T

cDNA Name c.2158C>T 
Protein Name p.Gln720X 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name Q720X 
Other Details This mutation was seen in a 7 year-old CF patient whose other CF mutation is [delta]F508. We do not yet have any clinical information. 
Contributors Malone G, Andrew N, Schwarz M   1999-06-04
Institute Royal Manchester Children's Hospital England 
Submitted Phenotype Details The patient (female) was born in August 1963. She carries DelF508 on the other allele. (pers. corr. Schwarz) 
Reference Malone et al. 1999 

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The Database was last updated at Apr 25, 2011