Mutation Details for c.744-14_744-3del
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cDNA Name
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c.744-14_744-3del
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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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876-14del12
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Other Details
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The deletion which probably alters the spice mutation was found in a patient of French origin.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Audrezet Mp,
Mercier B,
Guillermit H
1992-06-22
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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 identified in a French CF patient (male, 13y) diagnosed at birth. He has mild pulmonary symptoms and also carries deltaF508 on the other allele. (pers. corr. Ferec)
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Reference
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Audrézet et al. 1993a
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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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