Mutation Details for c.1393-2A>G
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cDNA Name
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c.1393-2A>G
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Exon or Intron
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intron 10
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Legacy Exon or Intron
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intron 9
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1525-2A->G
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Other Details
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Contributors
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Ferec C.
2002-01-01
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Institute
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Centre de Transfusion Sanguine et de Biogenetique Brest, France
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Submitted Phenotype Details
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The French CF male patient genetically tested at 7 years of age, had sweat chloride 70-80 mmol/l, moderate lung disease and is PS. He carries 2789+5G->A on the other allele. (pers.corr. Ferec)
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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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