Mutation Details for c.2079T>G
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cDNA Name
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c.2079T>G
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Protein Name
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p.Phe693Leu
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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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F693L(TTG)
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Other Details
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This mutation was seen on 1 U.S. Hispanic chromosome. ASO analysis revealed that this alteration was not present on 100 non-CF Caucasian chromosomes. This mutation was found in a 17-year old patient with a diagnosis of severe asthma. Sweat testing was high/borderline with values of 86, 58 and 53. Tests were negative for staph and pseudomonas. The mutation was found after sequencing. The 5T splice variant was also found. We are waiting for parental DNA to determine if the 5T is in cis or trans with this mutation.
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Contributors
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Meyer M,
Groman J,
Cutting G R
2001-04-25
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Institute
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Institute of Genetic Medicine
Cystic Fibrosis Foundation Genotyping Center,
Baltimore, MD,
USA
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Submitted Phenotype Details
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Reference
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Meyer et al. 2001
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