Mutation Details for c.3294G>C
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.3294G>C
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Protein Name
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p.Trp1098Cys
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Templin C, Altieri JP, Guittard C, Claustres M, des Georges M. | - | Laboratoire de Génétique Moléculaire, IURC | | 641, Av. du Doyen Gaston Giraud | - | 34093 Montpellier Cedex 5, France |
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Submitted Phenotype Details
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This missense mutation was identified by sequencing in a newborn with positive IRT at birth (>110 ng/ml - IRT normal value < 65 ng/ml), p.Phe508del on the other allele and positive sweat test (84/76 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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