Mutation Details for c.3607A>G

Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name c.3607A>G 
Protein Name p.Ile1203Val 
Exon or Intron  
Other Details This mutation was identified by DHPLC and confirmed by sequencing reaction 
Contributors and Institutes
HADJ FREDJ Sondess and MESSAOUD Taieb- Laboratoire de Biochimie et de Biologie moleculaire- Hopital d’Enfants de Tunis-Tunisie -
  
Submitted Phenotype Details This mutation was found in homozygous state in a 2 month-old boy with obstructive lung disease, airway colonization by Pseudomonas aeruginisa and positive sweat test (67mM) 
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