Mutation Details for c.744-3C>T
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cDNA Name
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c.744-3C>T
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Exon or Intron
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intron 6
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Legacy Exon or Intron
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intron 6a
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876-3C->T
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Other Details
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Tthis substitution was found on an allele also bearing 876-14del12. This chromosome was given to a CF child with [delta]F508 on the other allele. No other substitution has been identified on this complex allele.
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Contributors
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Chevalier-Porst F,
Bozon D
1999-05-04
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Institute
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Hopital Debrousse,
Lyon, France
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Submitted Phenotype Details
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The mutation was identified in a 21 years old female with PI, and the following phenotype: 876-14del12,876-3C->T/delF508 (pers. corr. Bozon)
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Reference
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Chevalier-Porst & Bozon 1999
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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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