Mutation Details for c.3103C>T
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cDNA Name
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c.3103C>T
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Protein Name
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p.Gln1035X
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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Q1035X
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Other Details
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This mutation was identified in one German CF chromosome.
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Contributors
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Nadja Bogdanova, Bernd Dworniczak, Jurgen Horst
2004-06-16
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Institute
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Institute of Human Genetics, University of Muenster, Germany
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Submitted Phenotype Details
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The patient (29 years old) is compound heterozygous for F508 and Q1035X. Mild CF-phenotype, in R - cysts in the lungs.
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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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