Mutation Details for c.2835G>A
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cDNA Name
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c.2835G>A
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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2967G/A
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Other Details
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We would like to report to the consortium one novel sequence variation located in exon 15 of the CFTR gene. This polymorphism S945S (TCG->TCA; 2967 G->A) was found by DGGE using chemical clamps and identified by direct sequencing. This nucleotide substitution destroys a Taql restriction site, like the S945L mutation.
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Contributors
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Bienvenu T,
Borde P,
Bousquet S,
Herbulot C,
Beldjord C
1996-09-19
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Institute
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Laboratoire de Biochimie Génétique, Pavillon Cassini,
Paris, France.
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Submitted Phenotype Details
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Reference
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Bienvenu et al. (NL#69)
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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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