Mutation Details for c.2619+18_2619+23del
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cDNA Name
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c.2619+18_2619+23del
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Exon or Intron
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intron 15
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Legacy Exon or Intron
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intron 14a
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IVS14a+17del5
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Other Details
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This polymorphism was found by DGGE and identified by direct sequencing in a Lebanese family. It was detected in a CF patient's father with [delta]F508 on the other chromosome.
It does not modify a restriction site.
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Contributors
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Claustres M,
Guittard C,
Desgorges M,
Carles S
1999-02-08
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Institute
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Institut de Biologie Montpellier,
France
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Submitted Phenotype Details
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IVS14a+17del5 was found in normal chromosom of CF patient's father. (Lebanese family)(pers. corr. Claustres)
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Reference
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Claustres et al. 1999
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