Mutation Details for c.980delT

cDNA Name c.980delT 
Protein Name p.Leu327GlnfsX42 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1112delT 
Other Details The mutation was found in two Swedish CF patients by multiplex heteroduplex analysis on an MDE gel. One patient with French ancestry carried [delta]F508 on the other allele; the patient had sweat chloride of 112 meq/l, pancreatic insufficient, and moderate lung disease. The second patient was homozygous for 1112delT; sweat chloride was 110 meq/l; also pancreatic insufficient and moderate lung disease.  
Contributors Zielenski J, Tzountzouris J, Tsui L-C, Bjorck E, Strandvik B, Wahlstrom J   1998-03-19
Institute The Hospital for Sick Children, Toronto, Canada Sahlgrenska University Hospital East Gothenburg, Sweden 
Submitted Phenotype Details No additional clinical data available. See original note. (pers. corr. Zielenski) 
Reference Zielenski et al. (NL#70) 

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The Database was last updated at Apr 25, 2011