Mutation Details for c.2145_2146delAAinsGT
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cDNA Name
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c.2145_2146delAAinsGT
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Protein Name
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p.Lys716X
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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K716X
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Other Details
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This variation was found on one French chromosome.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Mercier B,
Audrezet MP,
Guillermit H
1992-06-12
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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 found associated with Q715Q in a French male CF patient carrying 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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