Mutation Details for c.3883delA
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cDNA Name
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c.3883delA
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Protein Name
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p.Ile1295PhefsX33
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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4015delA
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Other Details
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A novel mutation was identified by DGGE and direct sequencing. This deletion was identified on one chromosome from a French CF patient.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Raguenes O,
Audrezet MP,
Mercier B
1994-10-16
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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 French CF patient (female) has sweat chloride of 111-138 mmol/l and carries deltaF508 on the other allele. (pers.corr. Ferec)
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Reference
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Férec et al. (NL#63)
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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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