Mutation Details for c.3294delG
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cDNA Name
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c.3294delG
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Protein Name
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p.Trp1098CysfsX4
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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3425delG
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Other Details
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3425delG was identified in a German CF family from lower Saxonia; the affected girl carried 3425delG on her paternal and [delta]F508 on the maternal allele.
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Contributors
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Dörk T,
Skawran B,
Antonin W,
Ebhard M,
Stegh A,
Ellemunter H,
Schmidtke J,
Stuhrmann M
1995-12-07
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Institute
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Medizinische Hochschule
Hannover, Germany
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Submitted Phenotype Details
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The CF patient (female) carries DeltaF508 on the other allele.
(pers. corr. Doerk)
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Reference
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Dörk et al (NL#67)
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