Mutation Details for c.3304A>T
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cDNA Name
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c.3304A>T
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Protein Name
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p.Arg1102X
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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R1102X
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Other Details
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This mutation was identified on one French CF chromosome.
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Contributors
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Claustres M, des Georges M, Altieri JP
2004-09-23
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Institute
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Laboratoire de Genetique Moleculaire, IURC
641, Av. du Doyen Gaston Giraud
34093 Montpellier Cedex 5, France
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Submitted Phenotype Details
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This stop mutation was found in a baby referred for neonatal screening for cystic fibrosis (IRT > 130 ng/ml - IRT normal value < 65 ng/ml) and carrying p.F508del on the other allele. Her sweat test was 91 mmol/l.
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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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