Mutation Details for c.3963+1G>C
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cDNA Name
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c.3963+1G>C
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Exon or Intron
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intron 24
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Legacy Exon or Intron
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intron 21
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4095+1G>C
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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 252 microg/L and sweat chloride 100 mEq/L).
It was inherited from the mother, who is from Africa
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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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