Mutation Details for c.1478A>G
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cDNA Name
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c.1478A>G
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Protein Name
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p.Gln493Arg
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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Q493R
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Other Details
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This mutation was identified by DGGE and direct sequencing which was found in a Bulgarian CF chromosome.
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Contributors
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Kalaydjieva L,
Savov A,
Jordanova A,
Ferec C,
Quere I,
Audrezet MP,
Mercier B
1993-02-19
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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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One patient (male, 10y) was diagnosed with CF at 2 months, no meconium ileus. He is PI, sweat chloride 82-90 mmol/l, and has severe lung disease, with Staph Aureus colonisation.
(pers. corr. Savov)
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Reference
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Savov et al. 1994a
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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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