Mutation Details for c.489+2T>G
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cDNA Name
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c.489+2T>G
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Exon or Intron
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intron 4
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Legacy Exon or Intron
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intron 4
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621+2T->G
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Other Details
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This variation was detected by SSCP then identified by direct sequencing. It has been detected once among 105 unrelated CF chromosomes.
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Contributors
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Claustres M,
Laussel M,
Razakatsara G
1992-12-07
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Institute
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Laboratoire de Biochimie Genetique
Montpellier, France
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Submitted Phenotype Details
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The female patient (6 years old) is PI, has moderate lung disease at 5 years of age and sweat chloride78/82 mmol/l. She also carries the R792X and L967S mutations. (pers. corr. Claustres)
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Reference
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Claustres et al. 1993
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