Mutation Details for c.3744delA
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cDNA Name
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c.3744delA
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Protein Name
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p.Lys1250ArgfsX9
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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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3876delA
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Other Details
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This mutation was detected by heteroduplex analysis and direct DNA sequencing in one CF patient carrying [delta]F508 as the other allele.
This mutation was also reported by Wang et al. (12/11/98). It was detected by TTGE (Temporal Temperature Gel Electrophoresis) and identified by direct sequencing.
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Contributors
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Zielenski J,
Tzountzouris J,
Tsui L-C
1997-08-12
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Institute
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The Hospital for Sick Children,
Toronto, Canada
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Phenotype Information
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CFTR2
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Reference
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Zielenski et al. (NL#70)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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