Mutation Details for c.164+2T>C
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cDNA Name
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c.164+2T>C
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Exon or Intron
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intron 2
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Legacy Exon or Intron
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intron 2
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296+2T->C
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Other Details
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This mutation was identified on one french CF chromosome.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Raguenes O,
Audrezet MP,
Mercier B
1994-07-19
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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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The French CF patient (male) has positive sweat chloride and carries DeltaF508 on the other allele.
(pers.corr. Ferec)
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Reference
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Férec et al. (NL#63)
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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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