Mutation Details for c.1209+1G>A
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cDNA Name
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c.1209+1G>A
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Exon or Intron
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intron 9
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Legacy Exon or Intron
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intron 8
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1341+1G->A
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Other Details
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Splicing mutation 1341+1 G->A was identified in a German CF patient who is heterozygous for this mutation and for [delta]F508.
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Contributors
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Dörk T,
Schmidtke J,
Stuhrmann M
1996-09-23
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Institute
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Institut fur Humangenetik, Medizinische Hochschule Hannover,
Hannover, Germany.
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Phenotype Information
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CFTR2
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Reference
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Dörk et al. (NL#69)
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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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