Mutation Details for c.1679+1.6kbA>G
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cDNA Name
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c.1679+1.6kbA>G
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Exon or Intron
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intron 12
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Legacy Exon or Intron
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intron 11
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1811+1.6kbA->G
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Other Details
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The 1811+1.2kbA->G mutation was detected by RNA analysis in two patients (one heterozygous for [delta]F508 and the other for G542X) as an insertion of 49 bp between exons 11 and 12. This mutation has also been confirmed by DNA analysis (direct sequencing and mutagenesis primers) and it has been found in 19 unrelated Spanish CF chromosomes and 1 German CF chromosome. Therefore, 1811+1.2kbA->G is the fourth most frequent mutation in the Spanish population (final estimated frequency: 2%). This mutation could also explain some of the CF chromosomes with unknown mutation especially in those that the entire CF coding sequences have been analysed with negative results. Mutation 1811+1.2kbA->G has been detected in chromosomes with the 3601-111G->C change (in intron 18). Since we have not detected any abnormal band between exons 18 and 19 by RNA analysis, we believe that 3601-111G->C is not a disease mutation. Furthermore, the 3601-111G-> change is strongly associated with mutation 1811+1.2kbA->G, as both changes have always been detected together
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Contributors
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Chillon M,
Dork T,
Nunes V,
Casals T,
Estivill X
1993-10-04
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Institute
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Institut de Recerca Oncologica
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Phenotype Information
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CFTR2
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Reference
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Chillón et al. 1995
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