Mutation Details for c.3855delC

cDNA Name c.3855delC 
Protein Name p.Phe1286LeufsX3 
Exon or Intron exon 23 
Other Details This was a case of 34 years old male with PI, bronchiectasis and chronic cough. His sweat chloride was 108 mEq/L, IRT 0.83µg/L and CT abdomen showed pancreatic atrophy (pers. corr. Prasad). 
Contributors and Institutes
Sharma N - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Singh M - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Kaur G - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Prasad R - Postgraduate Institute of Medical Education and Research, Chandigarh, India.
  
Submitted Phenotype Details This was a case of 34 years old male with PI, bronchiectasis and chronic cough. His sweat chloride was 108 mEq/L, IRT 0.83µg/L and CT abdomen showed pancreatic atrophy (pers. corr. Prasad). 
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