Mutation Details for c.3208C>T
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cDNA Name
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c.3208C>T
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Protein Name
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p.Arg1070Trp
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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R1070W
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Other Details
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Teh R1070W mutation was detected on 1 US Caucasian chromosome out of 48 screened. ASO analysis of 100 non-CF Caucasian chromosomes did not reveal this mutation on any of the tested chromosomes. The 15 months old CBAVD patient carries the [delta]F508 mutation on the other allele.
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Contributors
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Macek MJr,
Sedriks S,
Kiesewetter S,
Cutting GR
1993-08-20
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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#58)
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