Mutation Details for c.2290_2300delCGAAGGAGGCA

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

cDNA Name c.2290_2300delCGAAGGAGGCA 
Protein Name p.Arg764ValfsX11 
Exon or Intron  
Other Details Mutation identified by Sanger sequencing and also verified by independent size analysis. 
Contributors and Institutes
Dr. Christopher Konialis - Department of Molecular Genetics and Genomics
InterGenetics - Diagnostic Genetic Center - Athens, Greece
Submitted Phenotype Details Male carrier, unaffected. His brother has affected child and initially reported with the 2418GG>T mutation (see mutation details for c.2286G>T). Therefore, the c.2286G>T(2418GG>T) mutation should be corrected to c.2290_2300delCGAAGGAGGCA.  

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