Mutation Details for c.214G>A
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cDNA Name
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c.214G>A
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Protein Name
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p.Ala72Thr
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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A72T
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Other Details
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The mutation A72T was detected in a cascade carrier screening in a healthy female. The above mutation was discovered by DGGE and identified by direct sequencing. The A72T mutation has been found once in 353 non-deltaF508 CF chromosomes from the Portuguese population. This mutation was found neither in 291 normal chromosomes nor in 177 with an identified CF mutation.
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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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This individual (32,female) is a healthy carrier (found in cascade screening).
No other mutation was found.
(pers. corr. Pacheco)
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Reference
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Pacheco et al. 1999
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