Mutation Details for c.3935A>G
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cDNA Name
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c.3935A>G
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Protein Name
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p.Asp1312Gly
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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D1312G
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Other Details
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This mutation was identified on one libanon CF chromosome
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Contributors
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CABET/BEY - OMAR F., PLOYE F., MOREL Y.
2008-04-03
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Institute
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Lab. d'Endocrinologie Moleculaire et Maladies Rares.
Groupement Hospitalier Est. Bron
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Submitted Phenotype Details
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D1312G was found in a boy (14 yrs old) with chronic sinusitis, bronchitis with pseudomonas, short stature, low weight and negative sweat chloride test. The mutation on the other chromosome is unknown.
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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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