Mutation Details for c.1766+30G>A
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cDNA Name
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c.1766+30G>A
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Exon or Intron
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intron 13
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Legacy Exon or Intron
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intron 12
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1898+30G/A
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Other Details
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The 1898+30G/A polymorphism was found in a Portuguese patient with a non-confirmed CF diagnosis. The above polymorphism was discovered by DGGE and identified by direct sequencing. This nucleotide change has been found once in 353 non-deltaF508 CF chromosomes tested from the Portuguese population. This nucleotide change was found neither in 291 normal chromosomes nor in 177 with an identified CF mutation. The patient was a new-born with respiratory insufficiency and infection, and growth retardation. No CF mutation was found and the CF diagnosis was not confirmed.
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Contributors
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Pacheco P,
Loureiro P,
Lavinha J
1999-06-02
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Institute
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Instituto Nacional de Saúde
Lisboa, Portugal
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Submitted Phenotype Details
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Reference
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Pacheco et al. 1999
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