Mutation Details for c.4242+1G>A
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cDNA Name
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c.4242+1G>A
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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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4374+1G->A
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Other Details
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The mutation is found, associated with haplotype D, in a French patient having [delta]F508 on the other chromosome. We checked 66 non-[delta]F CF chromosomes and 42 N chromosomes, but did not see another example. This mutation was detected by denaturing gradient gel electrophoresis of PCR products, and identified by direct sequencing. In addition, the mutation abolishes a Hph I restriction site.
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Contributors
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Goossens M,
Ghanem N,
Fanen P,
Vidaud M
1990-10-23
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Institute
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Unite de Recherches en Genetique Mleculaire et en Hematologie
Creteil, France
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Submitted Phenotype Details
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4374+1G->Awas found in a 20y female CF patient, diagnosed at 1 month of age, also carrying F508del on the other allele. She is PI, with positive sweat chloride. (pers. corr. Girodon)
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Reference
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Fanen et al. 1992
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