Mutation Details for c.3712C>T
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cDNA Name
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c.3712C>T
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Protein Name
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p.Gln1238X
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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Q1238X
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Other Details
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This mutation was found in one CF patient of French origin. It destroys a HaeIII restriction site and could be screened by enzyme digestion. The affected child is carrying a G 542 X on the other chromosome and is pancreatic insufficient with a severe form of the disease.
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Contributors
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Audrezet MP,
Guillermit H,
Quere I,
Verlingue C,
Ferec C
1992-03-03
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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(female, 27y) diagnosed at birth. She is PI, has moderate lung disease and sweat chloride of 102 mmol/l. Unknown other mutation. (pers.corr. Ferec)
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Reference
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Audrézet et al. 1993a
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