Mutation Details for c.3197G>T
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cDNA Name
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c.3197G>T
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Protein Name
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p.Arg1066Leu
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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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R1066L
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Other Details
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This is the third mutation describe at this codon 1066 which contains a CpG dinucleotide and appears to be a hot spot for mutations. The mutation was found once among more than 250 CF chromosomes we have analyzed in exon 17b.
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Contributors
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Ferec C,
Quere I,
Guillermit H,
Audrezet MP,
Verlingue C,
Mercier B
1992-04-10
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The French CF patient (male) has sweat chloride of 127 mmol/l and carries deltaF508 on the other allele. (pers.corr. Ferec)
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Reference
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Mercier et al. 1993b
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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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