Mutation Details for c.1950C>T
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cDNA Name
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c.1950C>T
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2082C/T
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Other Details
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This mutation was detected by DGGE analysis and identified by automatic sequencing. The mutation destroys a Taq I restriction site. It was found once out of 100 control chromosomes, in a 38 years old blood female donor. It was absent in 104 chromosomes of COPD patients, in 46 chromosomes of DBE patients, and in 60 chromosomes of CF patients, all screened by DGGE).
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Contributors
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Bombieri C,
Belpinati F,
Benetazzo M G,
Pignatti P F
1999-02-01
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Institute
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Inst. Biology and Genetics
University of Verona,
Italy
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Submitted Phenotype Details
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This individual (F) is 38y and is NOT a CF patient. She is a blood donor.
No other muation was found.
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Reference
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Bombieri et al. 1999
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