Mutation Details for c.204A>T
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cDNA Name
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c.204A>T
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Protein Name
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p.Lys68Asn
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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K68N
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Other Details
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This mutation was detected in a single Turkish CF patient of Syrian origin. The second mutation is yet unknown. The mutation segregates with haplotype C.
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Contributors
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Dork T,
Tummler B
1992-08-11
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Institute
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Medizinische Hochschule Hannover
Hannova, Germany
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Submitted Phenotype Details
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The patient (male) has CF and is PS. Unknown other mutation. (pers.corr. Dork)
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Reference
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Dörk & Tümmler (NL#48)
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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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