Mutation Details for c.1680-26T>C
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cDNA Name
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c.1680-26T>C
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Exon or Intron
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intron 12
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Legacy Exon or Intron
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intron 11
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1812-26T->C
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Other Details
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This mutation was detected by DGGE and direct sequencing. It was observed only once among 200 CF chromosomes.
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Contributors
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Alonso MJ, Velasco E, Telleria J, Fernandez I, Blanco A.
2003-07-13
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Institute
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Laboratorio de Pediatría- IBGM. Facultad de medicina. Universidad de Valladolid. Spain
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Submitted Phenotype Details
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This mutation was identified in a 18 years-old Spanish female with disseminated bronchiectasis and negative sweat chloride test. No other mutation was found.
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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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