Mutation Details for c.3068_3072delTAGTG
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cDNA Name
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c.3068_3072delTAGTG
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Protein Name
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p.Ile1023SerfsX22
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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3200_3204delTAGTG
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Other Details
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Names in accordance with standard nomenclature guidelines(HGVS):
c.3068_3072delTAGTG or p.Ile1023SerfsX21
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Contributors
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Claustres M, Guittard C, Altieri JP, Templin C, des Georges M.
2008-01-28
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Institute
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Laboratoire de Genetique Moleculaire. IURC. CHU de Montpellier. France
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Submitted Phenotype Details
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This de novo mutation was identified by sequencing in a newborn presenting positive IRT at birth and heterozygous for the most common mutation (p.Phe508del). The sweat test was positive (92/95 mmol/l). It occurs on the paternal chromosome.
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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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