Mutation Details for c.4040_4041delGC
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cDNA Name
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c.4040_4041delGC
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Protein Name
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p.Ser1347ThrfsX11
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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4172delGC
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Other Details
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The second chromosome carries a S1251N in exon 20. The patient is of French origin, 4 years old, and pancreatic insufficient.
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Contributors
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Ferec C,
Quere I,
Audrezet MP,
Verlingue C,
Raguenes O,
Guillermit H,
Mercier B
1993-02-19
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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 French CF patient (female, 13y) who is PI and carries S1251n on the other allele. (pers.corr. Ferec)
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Reference
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Férec et al. (NL#53)
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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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