Mutation Details for c.4242_4242+1delGGinsTT
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cDNA Name
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c.4242_4242+1delGGinsTT
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Protein Name
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p.Leu1414Phe
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Exon or Intron
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exon 26 - intron 26
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Legacy Exon or Intron
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exon 23 - intron 23
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4374_4374+1GG>TT
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Other Details
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The complex mutation was identified in trans of deltaF508 in an infant who was diagnosed with CF based on neonatal screening results (IRT 122 microg/L and positive sweat test).
It was inherited from the mother, who is from Western France.
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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 is still asymptomatic.
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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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