Mutation Details for c.4243-7delT
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cDNA Name
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c.4243-7delT
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Exon or Intron
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intron 26
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Legacy Exon or Intron
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intron 23
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4375-7delT
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Other Details
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Found in an 11 year-old girl who is heterozygous for F508del and whose brother is homozygous for F508del. She also carries the L467F and 3030G/A polymorphisms. The phase of all four sequence changes is unknown.Three separate splice site prediction programs predict a possible effect on splicing.NB: No clinical or genetic investigations have been carried out on the parents.
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Contributors
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Mike Bulman
Megan Adaway
Chris Charlton
Emma Brownsell
Jo Brock
Martin Schwarz
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Institute
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Regional Molecular Genetics ServiceSt Mary’s Hospital, Manchester UK
Regional Molecular Genetics ServiceSt Mary’s Hospital, Manchester UK
Regional Molecular Genetics ServiceSt Mary’s Hospital, Manchester UK
Regional Molecular Genetics ServiceSt Mary’s Hospital, Manchester UK
Regional Molecular Genetics ServiceSt Mary’s Hospital, Manchester UK
Regional Molecular Genetics ServiceSt Mary’s Hospital, Manchester UK
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Submitted Phenotype Details
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She has a borderline/positive sweat test (Cl 59mmol/L) but is otherwise 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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