Mutation Details for c.79G>A
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cDNA Name
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c.79G>A
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Protein Name
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p.Gly27Arg
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Exon or Intron
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exon 2
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Legacy Exon or Intron
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exon 2
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G27R
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Other Details
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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.
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Contributors
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Oller Ramirez A, Gimenez J, Ramos MD, Ghio A, Dodelson de Kremer R, Casals T
2004-05-11
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Institute
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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.
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Submitted Phenotype Details
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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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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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