Mutation Details for c.4097T>A

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

cDNA Name c.4097T>A 
Protein Name p.Ile1366Asn 
Exon or Intron  
Other Details  
Contributors and Institutes
Ferec C., Audrezet MP, Chen JM - INSERM, U613 (Génétique Moléculaire et Génétique Epidémiologique), Brest, France 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 carrying CFTRdele2,3 on the other allele. Sweat chloride concentration 51-58 mmol/l., rectal prolapse, pancreatic sufficient.  

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