Mutation Details for c.3021delT

cDNA Name c.3021delT 
Protein Name p.Val1008SerfsX15 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3152delT 
Other Details  
Contributors Tzetis M.,   2002-01-01
Institute Department of Medical Genetics University of Athens St Sophia's Children's Hospital 
Submitted Phenotype Details The patient (female, 20y) was diagnosed when 3 years old, presenting with dehydration , she is PI, has sweat chloride 92.2 mmol/l, FEV1 88%, chronic cough and Pseudomonas Aeruginosa infections. She carries deltaF508 on the other allele. (pers. corr. Tzetis) 

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The Database was last updated at Apr 25, 2011