Mutation Details for c.3293G>T
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cDNA Name
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c.3293G>T
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Protein Name
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p.Trp1098Leu
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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W1098L
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Other Details
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This mutation was identified on the Labanese CF chromosome by sequencing of the whole CFTR gene. No other mutation was identified.
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Contributors
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Brakensiek,K, Frye-Boukhriss,H, Stuhrmannn,M
2007-06-26
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Institute
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Institute of Human Genetics, Hannover Med. School, Germany
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Submitted Phenotype Details
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The individual (male, 5y) was suspected to have CF. No clinical information available.
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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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