Mutation Details for c.3430C>T

cDNA Name c.3430C>T 
Protein Name p.Gln1144X 
Exon or Intron exon 21 
Legacy Exon or Intron exon 18 
Legacy Name Q1144X 
Other Details The above mutation was detected by DGGE analysis and identified by direct DNA sequencing. The mutation was found on the same chromosome carrying R75Q, in a male CF patient whose other mutation is [delta]F508. Q1144X was seen only once in over 150 non-[delta]F508 chromosomes screened. The DGGE primers were supplied by Prof. Michel Goossens on behalf of the European Community Concerned Action for the Co-ordination of Cystic Fibrosis Research and Therapy. 
Contributors Schwarz M, Hawworth A, Malone G   1995-09-04
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details The patient (male, born in October 1978) carries R75Q on the same chromosome as Q1144X and DeltaF508 on the other. (pers. corr. Schwarz) 
Reference Schwarz et al (NL#67) 

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The Database was last updated at Apr 25, 2011