Mutation Details for c.4202A>C
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cDNA Name
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c.4202A>C
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Protein Name
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p.Glu1401Ala
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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E1401A
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Other Details
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This mutation was detected by multiplex DGGE and identified by direct sequencing. It was founf in a Czech CF pacient with lung disease. [delta]F508 was found on the other chromosome. The patient was referred by the department of Medical Genetics,niversity Hospital Hradec Kralove,Cz.
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Contributors
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Valaskova I.,Tavandzis S.,Kadlecova J.,Kratochvilova A.,Ravcukova B.,Gaillyova R.,Fiedler Z.,Vanicek H.
2002-10-23
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Institute
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University Children Hospital Brno,Czech Republic University Hospital Hradec Kralove,Czech republic
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Submitted Phenotype Details
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Reference
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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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