Mutation Details for c.-85C>G
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cDNA Name
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c.-85C>G
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Exon or Intron
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promoter
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Legacy Exon or Intron
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promoter and 5' UTR
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48C/G
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Other Details
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This sequence variation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France, who carries the 3532AC->GTA mutation on the same chromosome and the [delta]F508 on the other allele.
48C/G doesn't modify any restriction site.
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Contributors
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Claustres M,
Des Georges M
1998-12-08
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Institute
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Institut de Biologie Montpellier
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Submitted Phenotype Details
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48C/G is a polymorphism, found in cis with 3532AC>GTA. DeltaF508 was also found in the individual. (pers. corr. Claustres)
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Reference
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Claustres & Des Georges 1998
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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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