Mutation Details for c.980delT
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cDNA Name
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c.980delT
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Protein Name
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p.Leu327GlnfsX42
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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1112delT
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Other Details
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The mutation was found in two Swedish CF patients by multiplex heteroduplex analysis on an MDE gel. One patient with French ancestry carried [delta]F508 on the other allele; the patient had sweat chloride of 112 meq/l, pancreatic insufficient, and moderate lung disease. The second patient was homozygous for 1112delT; sweat chloride was 110 meq/l; also pancreatic insufficient and moderate lung disease.
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Contributors
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Zielenski J,
Tzountzouris J,
Tsui L-C,
Bjorck E,
Strandvik B,
Wahlstrom J
1998-03-19
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Institute
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The Hospital for Sick Children,
Toronto, Canada
Sahlgrenska University Hospital
East Gothenburg, Sweden
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Submitted Phenotype Details
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No additional clinical data available. See original note. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#70)
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