Mutation Details for c.54-5940_273+10250del21kb
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cDNA Name
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c.54-5940_273+10250del21kb
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Protein Name
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p.Ser18ArgfsX16
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Exon or Intron
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intron 1 - exon 3
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Legacy Exon or Intron
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intron 1 - exon 3
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CFTRdele2,3
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Other Details
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The CFTRdele2,3 mutation was found in a homozygous Turkish CF patient. Please see CFTRdele2 and CFTR25kbdel.
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Contributors
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Mekus F,
Dörk T,
Tummler B
1996-03-25
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Institute
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Medizinische Hochschule,
Hannover, Germany
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Phenotype Information
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CFTR2
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Reference
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Mekus et al. (NL#68)
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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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