Mutation Details for c.273+46T>G
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cDNA Name
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c.273+46T>G
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Exon or Intron
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intron 3
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Legacy Exon or Intron
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intron 3
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405+46G/T
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Other Details
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This was discovered by SSCP analysis, then identified by direct sequencing. It destroys a Nsi restriction site.
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Contributors
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Claustres M
1992-07-20
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Institute
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Laboratoire de Biochimie Genetique
Montpellier, France
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Submitted Phenotype Details
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405+46G/T was considered to be a polymorphism found in several patients or individuals. (pers. corr. Claustres)
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Reference
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Claustres et al. 1993
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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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