Mutation Details for c.3530delA
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cDNA Name
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c.3530delA
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Protein Name
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p.Lys1177SerfsX15
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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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3662delA
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Other Details
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The A nucleotide at position 3662 is deleted on one CF chromosome from an American black patient. This creates an in-frame stop codon 14 codons downstream. This mutation was observed in one of 32 American black and 32 Caucasian CF chromosomes examined. The mutation on this patient's other CF chromosome is unknown and this mutation was detected by direct sequencing.
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Contributors
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Cutting GR,
Curristin S
1990-08-07
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Institute
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Johns Hopkins Hospital
Baltimore, MD, USA
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Submitted Phenotype Details
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Reference
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Cutting et al. 1992
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