Mutation Details for c.3139+1G>A
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cDNA Name
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c.3139+1G>A
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Exon or Intron
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intron 19
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Legacy Exon or Intron
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intron 17a
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3271+1G->A
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Other Details
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A splice mutation was identified in intron 17a. The second chromosome carries a [delta]F508 mutation. The patient is of French origin, 10 years old, and pancreatic insufficient.
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Verlingue C,
Raguenes O,
Guillermit H,
Mercier B
1993-02-19
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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 mutation was found in a French CF patient (female) wyho is PI and carries deltaF508 on the other allele. (pers.corr. Ferec)
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Reference
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Mercier et al. 1994
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