Mutation Details for c.2619G>A
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cDNA Name
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c.2619G>A
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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2751G->A
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Other Details
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The above mutation was detected after DGGE and subsequent sequencing with Sequenase 2.0. The nucleotide change was detected once in 200 non-[delta]F508 chromosomes screened by DGGE. The mutation has been inherited from his mother and the second mutation, 457TAT->G is from his father. The male patient was born in April 1992 and the investigators do not have any clinical information.
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Contributors
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Wagner K,
Petek e
1995-01-20
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Institute
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University of Graz,
Austria
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Submitted Phenotype Details
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The CF patient (male) was diagnosed at 9 months of age. He carries 457TAT->G on the other allele. (pers. corr. Wagner)
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Reference
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Wagner et al. (NL#65)
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