Mutation Details for c.1209+6A>G
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cDNA Name
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c.1209+6A>G
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Exon or Intron
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intron 9
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Legacy Exon or Intron
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intron 8
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1341+6 A->G
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Other Details
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Contributors
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Angius A, Stasi M. Furbetta M.
2007-06-12
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Institute
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Pediatria, Laboratorio di Genetica Moleculare, Universita degli Studi di Perugia, Italy
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Submitted Phenotype Details
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This mutation was found in an Italian adult patient with idiopatic infertility; moreover detected in a 50 years old Italian man, also carrying R31C, with BPCO, Bronchiectasis, lung infection by Pseudomonas aeruginosa and sweat chloride 36mEq/l. He is PS
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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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