Mutation Details for c.1116+17C>T
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cDNA Name
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c.1116+17C>T
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Exon or Intron
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intron 8
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Legacy Exon or Intron
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intron 7
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1248+17C->T
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Other Details
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This sequence variation was found between intron and exon 7 and 8 in a CF patient who has an unidefined mutation on one chromosome, and [delta]F508 on the other. It is a C->G polymoporphism, but as there is an outside chance that this might affect splicing of exon 7. At present we have no evidence from the transcript that there is any aberrant splicing.
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Contributors
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Harris A
1990-11-29
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Institute
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United Medical & Dental Schools of Guy's & St. Thomas's Hospitals
London, England
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Submitted Phenotype Details
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Reference
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Harris (NL#29)
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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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