Mutation Details for c.2490+1G>T
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cDNA Name
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c.2490+1G>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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2622+1G->T
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Other Details
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This splicing mutation was found in a young boy having a complete severe form of CF, and carrying R1162X on the other chromosome.
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Contributors
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Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
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Institute
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Service de Biochimie-Genetique
Hopital Henri-Mondor,
France
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Submitted Phenotype Details
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2622+1G->T was found in a patient carrying R1162X on the other allele. The patient is a 15y male, diagnosed at 7y, PI, with moderate pulmonary symptoms, positive sweat chloride and nasal polyposis. (pers. corr. Girodon)
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Reference
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Girodon et al. 1999
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