Mutation Details for c.3308T>A

cDNA Name c.3308T>A 
Protein Name p.Ile1103Lys 
Exon or Intron  
Other Details The other chromosome carries the p.Phe508del mutation. 
Contributors and Institutes
Angius A., Stasi M., Becchetti T., Bitetti M.R., Cardellini M.C., Porro I.,Furbetta M. - Istituto di Pediatria
Lab. di Genetica Molecolare - Università degli Studi di Perugia
Submitted Phenotype Details The Italian patient is 14 years old, P.S., the sweat chloride value was 46 mmol/L , sodium value was 64mmol/L. He had respiratory symptoms since 6 y old. He had in the same chromosome (cis) the missense mutation p.Glu826Lys. 

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