Mutation Details for c.1714G>A
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cDNA Name
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c.1714G>A
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Protein Name
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p.Asp572Asn
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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D572N
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Other Details
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The nucleotide change G->A at nucleotide position 1846 leads to D572N in exon 12. This variation was observed on one CF chromosome in collaboration with Dr Kapranov (Moscow, Russia)
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Audrezet MP,
Raguenes O,
Guillermit H,
Mercier B
1993-06-07
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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 mutation was identified in a Russian CF patient. (pers.corr. Ferec)
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Reference
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Férec et al. (NL#59)
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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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