Mutation Details for c.415_416insGA
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cDNA Name
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c.415_416insGA
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Protein Name
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p.His139ArgfsX15
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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547insGA
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Other Details
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The mutation was identified in trans of deltaF508 in an infant who was diagnosed with CF based on neonatal screening results (IRT 193 microg/L and sweat chloride 104 mEq/L).
The parents were from West Indies (Guadeloupe).
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Contributors
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E. Girodon, C. Costa, M. Goossens
2006-08-25
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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The child had early CF symptoms: chest infections, P. aeruginosa colonization and pancreatic insufficiency. The sweat test was positive.
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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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