Mutation Details for c.1040G>T
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cDNA Name
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c.1040G>T
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Protein Name
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p.Arg347Leu
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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R347L
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Other Details
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A nucleotide change, G->T at position 1172, was detected leading to R347L. The other chromosome carries a [delta]F508. This mutation was found on one chromosome among 150 CF chromosomes screened.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Audrezet MP,
Guillermit H,
Mercier B
1992-05-07
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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 mutatipon was identified in a French CF patient (female, 12y) diagnosed at birth. Sweat chloride were initially negative, then became positive. Shecarries deltaF508 on the other allele. (pers.corr.Ferec)
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Reference
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Audrézet et al. 1993a
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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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