Mutation Details for c.2052A>G
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cDNA Name
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c.2052A>G
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2184A/G
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Other Details
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This variation was identified on one French chromosome.
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Contributors
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Claustres M, des Georges M, Templin C
2004-09-23
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Institute
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Laboratoire de Genetique Moleculaire, IURC<p>
641, Av. du Doyen Gaston Giraud<p>
34093 Montpellier Cedex 5, France
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Submitted Phenotype Details
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This variation was found in a baby referred for newborn screening for cystic fibrosis (IRT > 65 ng/ml - IRT normal value < 65 ng/ml). This variation is non specifically amplified by the c.2183AA>G primers in the kit Elucigene CF20.
No other mutation was identified using this kit.
Her sweat test was negative: 28 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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