Mutation Details for c.79G>C

cDNA Name c.79G>C 
Protein Name p.Gly27Arg 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name G27R(211G to C) 
Other Details This mutation was identified on one Czech CF chromosome  
Contributors Herova M, Soldatova I, Krepelova A, Vavrova V, Bartosova J, Holubova A, Libik M, Macek Jr. M   2005-03-29
Institute Institute of Biology and Medical Genetics Cystic Fibrosis Center, University Hospital Motol, Prague 
Submitted Phenotype Details Czech CF female patient (current age 7 years) was diagnosed at 3 months of life, presenting with metabolic failure. She had repeated rectal prolapse at the age of 2 B= years. Her sweat chloride concentrations were 73 and 84 mmol/l and she bears F508del on the second CF chromosome 

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The Database was last updated at Apr 25, 2011