Mutation Details for c.3196C>G

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

cDNA Name c.3196C>G 
Protein Name p.Arg1066Gly 
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 carrying F508del on the other allele. Diagnosed at the age of two years. Sweat chloride concentration 100 mmol/l, pancreatic insufficient.  

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The Database was last updated at Apr 25, 2011