Mutation Details for c.1270G>A
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cDNA Name
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c.1270G>A
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Protein Name
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p.Gly424Ser
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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G424S
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Other Details
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This sequence variation was detected by DGGE and identified by direct sequencing.
This missense mutation was not found in 100 other non-[delta]F508 CF chromosomes and 200 non CF chromosomes tested. This mutation was observed in a male subject with bronchiectasis. The other mutation is unknown.
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Contributors
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Bienvenu T,
Bousquet S,
Puechal X,
Berthelot J M,
Beldjord C
2000-01-07
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Institute
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Laboratoire de Biochimie Génétique
Groupe Hôspitalier Cochin,
France
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Submitted Phenotype Details
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The patients (female)is PS, has bronchiectasis and carries 3041-71G/C on the other allele. (pers. corr. Bienvenu)
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Reference
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Bienvenu et al. 2000
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