Mutation Details for c.3310G>A

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

cDNA Name c.3310G>A 
Protein Name p.Glu1104Lys 
Exon or Intron  
Other Details  
Contributors and Institutes
Krenkova P., Piskáčková T., Macek Jr. M - Department of Biology and Medical Genetics, 2nd Faculty of Medicine and Faculty Hospital Motol, Prague, Czech Republic -
Submitted Phenotype Details Found in one Czech female CF patient detected by newborn screening, sweat chloride concentration 75mmol/l, physiological pregnancy, without meconium ileus and malnutrition. The second CF allele is F508del.  

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