Mutation Details for c.595C>T
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cDNA Name
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c.595C>T
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Protein Name
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p.His199Tyr
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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H199Y
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Other Details
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The mutation was found in a German CF patient who is heterozygous for [delta]F508 and negative for more than 120 other known mutations. The patient was diagnosed by the age of four years because of recurrent pneumonias, but exhibits only mild pancreatic symptoms and borderline swet chloride values. So far, H199Y was not found in a further 28 German and 8 Turkish non-[delta]F508 CF chromosomes.
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Contributors
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Dork T,
Tummler B
1992-05-13
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Institute
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Medizinishce Hochschule Hannover
Hannova, Germany
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Phenotype Information
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CFTR2
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Reference
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Dörk & Tümmler (NL#45)
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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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