Mutation Details for c.3039delC

cDNA Name c.3039delC 
Protein Name p.Tyr1014ThrfsX9 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3171delC 
Other Details This mutation was detected by TTGE and DNA sequencing. It was found in a Hispanic cystic fibrosis patient. He had [delta]F508 mutaion on the other allele. 
Contributors Zhang Y, Wong L   2000-01-21
Institute Institute for Molecular and Human Genetics Georgetown University Medical Center, Washington DC, USA 
Submitted Phenotype Details The patient, carrying deltaF508 on the other allele, has sweat chloride 87 mmol/l, is PI, has bacterial lung colonization and associated hypothyroidism. (Wong et al. 2001) 
Reference Zhang & Wong 2000 

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The Database was last updated at Apr 25, 2011