Mutation Details for c.2908+2T>C
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cDNA Name
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c.2908+2T>C
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Exon or Intron
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intron 17
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Legacy Exon or Intron
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intron 15
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3040+2T->C
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Other Details
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Mutation 3040+2T->C, was identified in a CF patient who carries the [delta]F508 mutation on the other chromosome; this mutation alters the second nucleotide of intron 15 (splicing donor site).
The above mutation was identified by DGGE analysis and confirmed by DNA sequencing.
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Contributors
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Poncin J
1996-08-30
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Institute
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Génétique Humaine, Centre Hôspitalier Universitaire de LIEGE,
Liege, Belgium.
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Submitted Phenotype Details
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Reference
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Poncin (NL#69)
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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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