Mutation Details for c.163_164ins8
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cDNA Name
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c.163_164ins8
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Protein Name
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p.Arg55AsnfsX39
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Exon or Intron
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exon 2
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Legacy Exon or Intron
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exon 2
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295ins8
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Other Details
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The 8bp insertion was identified in a German CF patient heterozygous for the insertion and for [delta]F508.
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Contributors
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Dörk T,
El-Harith E-H A,
Schmidtke J,
Stuhrmann M
1996-11-21
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Institute
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Institut fur Humangenetik,
Medizinische Hachschule Hannover,
Hannover, Germany
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Submitted Phenotype Details
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The patient (female) has CF and carries delF508 on the other allele.
(pers.corr. Dork)
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Reference
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Dörk et al. (NL#69)
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