Mutation Details for c.2679G>T
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cDNA Name
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c.2679G>T
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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2811G/T
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Other Details
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This mutation was identified, by D-HPLC and direct DNA sequencing
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Contributors
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Bonizzato A.
2006-12-11
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Institute
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Laboratorio Analisi Chimico-cliniche ed Ematologiche, Ospedale Civile Maggiore - Verona, Italy.
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Submitted Phenotype Details
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The patient (female, 45 y) was diagnosed when 38 years old and presents an atypical CF phenotype with PS. The other CF chromosome carries the G542X mutation.
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Reference
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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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