Mutation Details for c.165-27_65-28insA
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cDNA Name
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c.165-27_65-28insA
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Exon or Intron
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intron 2
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Legacy Exon or Intron
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intron 2
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297-28insA
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Other Details
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This nucleotide with an insertion in intron 2 of the CFTR gene was identified by direct sequencing of exon 3. This mutation may affect splicing by aberrant lariat forming of pre-mRNA. Alternatively this insertion is just a rare (neutral) variant. CFTR-,RNA of this patient will be studied subsequently. This insertion creates an additional MseI restriction site in the exon 3 PCR product and has not been found in 50 unrelated normal individuals. The patient is of Dutch origin and another CFTR mutation has nto yet been identified.
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Contributors
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Scheffer H,
Dijkstra D-J
1993-11-29
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Institute
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Submitted Phenotype Details
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Reference
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Scheffer & Dijkstra (NL#60)
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