Mutation Details for c.2508delT
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cDNA Name
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c.2508delT
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Protein Name
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p.Asp836GlufsX8
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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2640delT
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Other Details
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This mutation was found by DGGE and identified by DNA sequencing in a CF child from Southern France. The patient carries N1303K on the other CF chromosome.
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Contributors
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Claustres M,
Pallares N
1998-08-04
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Institute
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Institut de Biologie Montpellier, France
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Submitted Phenotype Details
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The mutation was found in a 3 years old female, diagnosed at birth with meconium ileus. She is PS, has severe lung disease and positive sweat chloride. She carries N1303K on the other allele. (pers. corr. Claustres)
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Reference
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Claustres & Pallares (NL#70)
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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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