Mutation Details for c.2464G>T
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cDNA Name
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c.2464G>T
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Protein Name
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p.Glu822X
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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E822X
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Other Details
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The above mutation was detected by DGGE and confirmed by direct sequencing. It was found in 4 of 572 CF chromosomes screened (0.84%). The genotypes of the 4 Greek patients are: [delta]F508/E822X, 3272-26A->G/E822X, 621+1G->T/E822X and E822X/?.
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Contributors
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Tzetis M,
Antoniadi T,
Kanavakis E
1995-10-11
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Institute
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Athens University,
Greece
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Phenotype Information
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CFTR2
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Reference
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Tzetis et al (NL#67)
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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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