Mutation Details for c.2657+5G>A
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cDNA Name
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c.2657+5G>A
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Exon or Intron
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intron 16
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Legacy Exon or Intron
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intron 14b
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2789+5G>A
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Other Details
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The mutation may be detected by amplification with PCR primers 14Bi-5 and 14Bi-3 followed by ASO hybridization. The mutation was incorrectly identified as 2751+5G->A in NL#25 (Correction was made in NL#26).
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Contributors
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Highsmith WE,
Strong T,
Burch N,
Silverman LM,
Collins FS,
Boucher RC,
Knowles MR
1990-08-30
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Institute
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The University of North Carolina at Chapel Hill
Chapel Hill, NC, USA
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Phenotype Information
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CFTR2
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Reference
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Highsmith et al. 1990
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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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