Mutation Details for c.2978A>G
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cDNA Name
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c.2978A>G
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Protein Name
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p.Asp993Gly
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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D993G
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Other Details
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The mutation was detected by DHPLC analysis and characterized by direct sequencing
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Contributors
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CABET/BEY-OMAR F. , PLOYE F., MOREL Y.,
2007-03-14
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Institute
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Lab de Biologie Moleculaire et Endocrinienne Lyon France
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Submitted Phenotype Details
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D993G was identified in a 20 year-old female with moderate pulmonary symptoms (Staphylococcus infections), PS, negative sweat chloride.
An episode of pancreatitis in childhood(9y)
deltaF508 was found on the other allele.
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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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