Mutation Details for c.490-2A>G
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cDNA Name
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c.490-2A>G
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Exon or Intron
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intron 4
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Legacy Exon or Intron
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intron 4
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622-2A->G
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Other Details
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This splice mutation in intron 4 was identified by DGGE analysis. The 622- 2A-G mutation was found in one argentinean patient, who carries the F508del mutation on the other allele. It was not found on 78 non-F508del CF chromosomes.
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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 was detected for newborn screening and confirmed by sweat chloride. He is 3 years old, pancreatic insufficiency, mild lung involvement and he has not had lung colonization.
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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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