Mutation Details for c.3872A>G
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cDNA Name
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c.3872A>G
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Protein Name
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p.Gln1291Arg
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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Q1291R
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Other Details
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Q1291R, an A->G substitution at nucleotide position 4004 in exon 20 has a haplotype of 2-2-1 (KM19-D9-J44) with seven GATT repeats. The mutation creates a new BsaJI site.
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Contributors
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Dork T,
Kalin N,
Tummler B
1992-04-13
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Institute
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Medizinische Hochshule Hannover
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Submitted Phenotype Details
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The male CF patient is PI and carries DeltaF508 on the other allele.
(pers. corr. Doerk)
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Reference
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Dörk et al. 1994b
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