Mutation Details for c.3874-8T>A
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cDNA Name
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c.3874-8T>A
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Exon or Intron
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intron 23
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Legacy Exon or Intron
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intron 20
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4006-8T->A
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Other Details
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This substitution creates an Alu I site. The french CF patient has G542X on the other CF chromosome. This mutation was found once out of 1460 CF chromosomes screened.
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Contributors
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Chevalier-Porst F,
Bozon D
1998-07-13
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Institute
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Biochimie, Bat D,
Hopital Debrousse, Lyon, France
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Submitted Phenotype Details
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The mutation was identified in a 22 years olf female carrying G542X on the other allele. (pers. corr. Bozon)
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Reference
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Chevalier-Porst & Bozon (NL#70)
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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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