Mutation Details for c.2604A>G
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cDNA Name
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c.2604A>G
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Protein Name
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No Changes
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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2736G/A
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Other Details
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This polymoprhism was observed only once among 60 CF chromosomes and not observed among 55 normal chromosomes. It was characterized through DGGE and direct DNA sequencing.
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Contributors
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Quere I,
Verlingue C,
Guillermit H,
Audrezet MP,
Mercier B,
Ferec C
1991-11-13
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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 mutation was found in a French CF PI patient (female, 34y) whose other mutations are R1066C/2789+5. (pers.corr. Ferec)
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Reference
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Quere et al. (NL#40); Fanen et al. 1992
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