Mutation Details for c.3233T>C

cDNA Name c.3233T>C 
Protein Name p.Phe1078Ser 
Exon or Intron exon 20 
Other Details This mutation was identified on one morocco CF chromosome. 
Contributors and Institutes error reading database  
Submitted Phenotype Details F1078S was found in a girl positive for IRT test at the neonatal screening. Her sweat chloride levels ranging from (65 to 77mmol/l). The other mutation is 306delTAGA. 

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