Mutation Details for c.1392+6_1392+7insA
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cDNA Name
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c.1392+6_1392+7insA
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Exon or Intron
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intron 10
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Legacy Exon or Intron
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intron 9
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1524+6insC
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Other Details
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An insertion of a C nucleotide at position 1524 + 6. This sequence variation is associated was discovered in 3 non-[delta]F508 CF chromosomes of 50 screened. mRNA is not yet available from these patients, however we would like to suggest that this change could affect splicing because a C nucleotide is very rare at this position within mammalian 5'-splice sites (T 47%, G 22%, A 16%, C 15%).
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Contributors
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Bienvenu T,
Cazaneuve C,
Kaplan JC,
Neldjord B
1993-01-31
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Institute
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Hopitaux de Paris
Paris, France
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Submitted Phenotype Details
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The mutation was found in 3 brothers, carrying G85E on the other allele, PI, with positive sweat chloride and moderate respiratory symptoms. (pers. corr. Bienvenu)
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Reference
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Bienvenu et al. (NL#61)
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