Mutation Details for c.3131A>G
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cDNA Name
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c.3131A>G
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Protein Name
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p.Glu1044Gly
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Exon or Intron
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exon 19
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Other Details
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Contributors and Institutes
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| Templin C | - | Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France | | Altieri JP | - | Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France | | Guittard C | - | Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France | | Claustres M | - | Laboratoire de Génétique Moléculaire, IURC 641, Av. du Doyen Gaston Giraud 34093 Montpellier Cedex 5, France | | 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 presenting positive IRT at birth (>100 ng/ml - IRT normal value < 65 ng/ml), no common mutation (Elucigene kit CF30 / Tepnel) and positive sweat test (89/91mmol/l).
The baby is homozygous for this missense mutation, his parents are consanguineous and originating from Kurdistan.
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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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