Mutation Details for c.3982_3984delATAinsTT

cDNA Name c.3982_3984delATAinsTT 
Protein Name p.Ile1328LeufsX? 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name 4114ATA->TT 
Other Details  
Contributors    1993-01-01
Institute  
Submitted Phenotype Details The patient (male, 2y) was diagnosed with CF at 2 months. He is PI, has moderate lung disease and sweat chloride 100-110 mmol/l. (pers.corr.Doerk) 
Reference Dörk et al. 1993c 

To check if there are any papers published about this mutation/variant on PubMed, please click here.




Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011