Mutation Details for c.2571G>A
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cDNA Name
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c.2571G>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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2703G/A
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Other Details
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This polymorphism was found by DGGE and identified by DNA sequencing in a CF patient from South America. It creates a HindIII restriction site.
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Contributors
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Claustres M,
Guittard C,
Desgorges M,
Ramsay M
1997-07-23
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Institute
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Institut de Biologie Montpellier
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Submitted Phenotype Details
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2703G/A was found in a 2y F, PS, with chronic lung disease and 72/82 mmol/l sweat chloride - in a South Africa patient. (pers. corr. Claustres)
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Reference
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Claustres et al. (NL#69)
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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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