Mutation Details for c.1235delC
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cDNA Name
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c.1235delC
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Protein Name
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p.Ala412GlufsX30
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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1367delC
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Other Details
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Contributors
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Férec C
1999-01-01
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Institute
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Laboratoire de Biogénétique,
University of Brest
Brest, France
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Submitted Phenotype Details
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The mutation was identified in a French CF patient (male, deceased) diagnosed at birth, who was PI, had severe lung disease and sweat chloride of 176 mmol/l. He carried deltaF508 on the other allele. (pers. corr. Ferec)
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Reference
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Férec 1999
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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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