Mutation Details for c.3287delT
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cDNA Name
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c.3287delT
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Protein Name
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p.Leu1096ArgfsX6
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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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3419delT
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Other Details
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A novel frameshift mutation in exon 17b was idenified in a Greek CF patient who has the [delta]F508 mutation on the other allele. The deletion has been identified by DGGE analysis and direct sequencing. It creates a BstUI recognition site in the exon 17b PCR product and has not been identified in 70 undefined CF chromosomes.
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Contributors
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Balassopoulou A,
Fotaki V
1994-04-20
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Institute
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Laikon General Hospital
Athens, Greece
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Submitted Phenotype Details
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Reference
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Balassopoulou & Fotaki (NL#62)
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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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