Mutation Details for c.4196_4197delTC
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cDNA Name
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c.4196_4197delTC
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Protein Name
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p.Cys1400X
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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4326delTC
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Other Details
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HGVS nomenclature requires that the last two bases of the repeat are named, rather than the first two: hence 4329_4330, rather than 4326 (and 4327).
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Contributors
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Bulman M, Brownsell E, Schwarz MJ.
2008-06-25
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Institute
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Submitted Phenotype Details
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We have seen this mutation in a 10 year-old boy who has F508del on the other chromosome. He is pancreatic insufficient and has a sweat sodium of 103 (chloride not available).
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Reference
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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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