Mutation Details for c.-12_10del23
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.-12_10del23
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Exon or Intron
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promoter - exon 1
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Legacy Exon or Intron
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promoter and 5' UTR - exon 1
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120del23
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Other Details
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This mutation was detected by exon 1 sequencing in one Portuguese CF patient patient with the F508del mutation in the other gene.
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Contributors
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Pacheco P, Loureiro P, Ramalho A, Lopes B.
2006-05-12
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Institute
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Instituto Nacional de Saúde, Centro de Genética Humana, Lisboa, Portugal
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Submitted Phenotype Details
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This mutation was detected in a Portuguese female patient diagnosed with severe CF at 2 months of age with respiratory infections and 2 positive sweat tests. At 4 years of age, she was PI and was colonized with Pseudomonas aeruginosa.
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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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