Mutation Details for c.2491-11C>T
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cDNA Name
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c.2491-11C>T
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Exon or Intron
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intron 14
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Legacy Exon or Intron
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intron 13
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2623-11 C->T
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Other Details
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The variation was identified in a CF patient who was also heterozygous for deltaF508 and W1204X. Segregation analysis was not performed yet.
As 2623-11C>T may not alter the polypyrimidin acceptor splice site of intron 13, we suggest to consider it as a polymorphism.
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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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Classical CF
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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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