Mutation Details for c.2324_2325delAC
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cDNA Name
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c.2324_2325delAC
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Protein Name
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p.His775LeufsX3
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2456delAC
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Other Details
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This frameshift mutation was detected by DGGE and identified by DNA fluorescent sequencing in a CF patient from Southern France who carries the [delta]F508 mutation in trans.
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Contributors
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Claustres M,
des Georges M,
Guittard C
2001-05-09
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Institute
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IURC
Montpellier
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Submitted Phenotype Details
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The patient (female, 1y) was diagnosed at birth with meconium ileus. She has positive sweat chloride tests. She carries deltaF508 on the other allele. (pers. corr. Claustres)
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Reference
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Claustres et al. 2001
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