Mutation Details for c.3321dupT

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.3321dupT 
Protein Name p.Val1108CysfsX48 
Exon or Intron  
Other Details  
Contributors and Institutes
Paula Pacheco - Instituto Nacional de Saúde Dr Ricardo Jorge
Conceição Silva - Instituto Nacional de Saúde Dr Ricardo Jorge
  
Submitted Phenotype Details Female baby borned with meconium ileus. Negative in neonatal screening for CF. No more data available yet. 
Reference  

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