Mutation Details for c.3659delC
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cDNA Name
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c.3659delC
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Protein Name
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p.Thr1220LysfsX8
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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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3791delC
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Other Details
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The 3791delC mutation was detected on 1 African-American chromosome out of 50 Cf chromosome screened. The patient carries another yet unidentified CF allele on the other chromosome. Clinical information is not available.
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Contributors
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Macek MJr,
hamosh A,
Davis CL,
Cutting GR
1993-05-18
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Institute
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Center for Medical Genetics
Baltimore, MD, USA
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Phenotype Information
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CFTR2
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Reference
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Macek et al. (NL#55)
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