Mutation Details for c.79G>A

cDNA Name c.79G>A 
Protein Name p.Gly27Arg 
Exon or Intron exon 2 
Legacy Exon or Intron exon 2 
Legacy Name G27R 
Other Details This mutation, in exon 2, was detected by SSCA analysis. The G27R (G>A at 211) mutation was found in one argentinean patient. The male patient died at 14 years old, diagnosed at 2 months of age, who carries the F508del mutation on the other chromosome. 
Contributors Oller Ramirez A, Gimenez J, Ramos MD, Ghio A, Dodelson de Kremer R, Casals T   2004-05-11
Institute Center for the Study of the Inherited Metabolic Disease, CEMECO, Medical Sciences Faculty, National University of Cordoba, Children's Hospital, Argentina and CGMM-IRO, Barcelona, Spain. 
Submitted Phenotype Details The patient presented a severe phenotype (insufficient pancreatic, severe pulmonary disease, FEV1 34%, 2 pneumothorax, bilateral sinusitis, bronchiectasis and colonization by Pseudomonas aeruginosa and Staphylococcus aureus). 

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The Database was last updated at Apr 25, 2011