Mutation Details for c.4086_4087insT
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cDNA Name
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c.4086_4087insT
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Protein Name
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p.Lys1363X
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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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4218insT
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Other Details
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This mutation is caused by an insertion of a T at nucleotide position 4218 (5'-CAGTTAAGG-3'). This mutation has been detected once among 56 unrelated Belgian CF chromosomes.
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Contributors
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Cuppens H,
Marynen P,
Cassiman JJ
1992-08-11
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Institute
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University of Leuven
Leuven, Belgium
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Submitted Phenotype Details
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The mutation was identified in 2 male CF patients, both diagnosed in infancy, one PS (24 years old at time of genetic analysis, 3272-26A->G on the other allele) and one PI (11 years old, N1303K on the other allele), both having mild respiratory symptoms and elevated sweat chloride. (pers. corr. De Boeck)
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Reference
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Cuppens et al. 1993
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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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