Mutation Details for c.3964-78_4242+577del
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cDNA Name
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c.3964-78_4242+577del
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Exon or Intron
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exon 25 - exon 26
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Legacy Exon or Intron
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exon 22 - exon 23
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CFTRdele22,23
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Other Details
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This mutation was identified by QMPSF and Quantitative DHPLC Note that a 3 bp microhomology (act) was found at the breakpoints by sequence alignment
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Contributors
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Marie-Pierre AudrŽzet, Jian-Min Chen, Odile RaguŽns, Karine Giteau, CŽdric Le MarŽchal, Isabelle QuŽrŽ, and Claude FŽrec
2004-06-16
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Institute
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GŽnŽtique MolŽculaire, CHU, Brest, FRANCE
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Phenotype Information
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CFTR2
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Reference
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Genomic Rearrangements in the CFTR gene : Extensive Allelic Heterogeneity and Diverse Mutational Mechanisms Marie-Pierre AudrŽzet, Jian-Min Chen, Odile RaguŽns, Nadia Chuzhanova, Karine Giteau, CŽdric Le MarŽchal, Isabelle QuŽrŽ, David N. Cooper, and Claude FŽrec. Human Mutation (2004), 23:343-357.
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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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