Mutation Details for c.1029_1030insG
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cDNA Name
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c.1029_1030insG
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Protein Name
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p.Ile344AspfsX20
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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1161insG
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Other Details
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The above mutation was identified by SSCP followed by direct sequencing in a German CF patient with [delta]F508 on the other chromosome. The mutation was not found on 47 other non-[delta]F508 CF chromosomes.
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Contributors
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Varon R,
Reis A
1995-09-21
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Institute
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Virchow-Klinikum,
Berlin
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Submitted Phenotype Details
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Reference
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Varon R, Reis A (NL#67)
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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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