Mutation Details for c.912C>G
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cDNA Name
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c.912C>G
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Protein Name
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p.Tyr304X
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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Y304X
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Other Details
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The above mutation was found on a CF chromosome in a patient of French origin by DGGE and DNA sequencing. It was also found in the same family by V. Dumur and G.Lalau-Lille.
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Contributors
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Férec C,
Mercier B,
Quere I
1995-08-29
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Institute
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Centre de Transfusion Sanguine et de Biogénétique,
Brest, France
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Submitted Phenotype Details
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The mutation was found in a French CF female patient carrying deltaF508 on the other allele. (pers.corr. Ferec)
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Reference
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Férec et al (NL#67)
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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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