Mutation Details for c.3951delA

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

cDNA Name c.3951delA 
Protein Name p.Val1318LeufsX10 
Exon or Intron  
Other Details  
Contributors and Institutes
Szymanczak R, Insiak K, Boguszewska-Chachulska A - Genomed S.A, Poland
Submitted Phenotype Details Age: 37 Ethnicity: Polish, Caucasian Sweat chloride levels: 70 mmol/l, 90mmol/l, 60 mmol/l Pancreatic status: pancreatitis Infection status: recurrent infections  

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