Mutation Details for c.2619+3A>G
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cDNA Name
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c.2619+3A>G
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Exon or Intron
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intron 15
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Legacy Exon or Intron
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intron 14a
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2751+3A->G
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Other Details
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Abnormal DGGE pattern in exon 14a was detected for 2751+3A->G. Direct sequence of the sample allowed us to detect this new mutation. Mutation was observed in a Spanish man with CBAVD, carrying [delta]F508 and allele 5T intron 8. Screening in 154 CF and normal chromomsomes has been negative.
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Contributors
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Casals T,
Gimenez J,
Ramos MD,
Nunes V,
Estivill X
1995-03-22
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Institute
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Institut de Recerca Oncologica
Barcelona, Spain
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Submitted Phenotype Details
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The mutation was found in a 49 years old PS CBAVD patient carrying deltaF508 on the other allele. The mutation was also found in a PS CF patient. (pers. corr. Casals)
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Reference
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Casals et al. (NL#65)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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