Mutation Details for c.387delT
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cDNA Name
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c.387delT
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Protein Name
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p.Leu130SerfsX?
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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519delT
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Other Details
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This change has been detected by SSCP/HD analysis and direct sequencing in one Spanish CF allele
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Contributors
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J. Gimenez, MD. Ramos, H. Escobar, T. Casals
2004-12-29
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Institute
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CGMM-IRO. Barcelona. Spain
Hospital Ramon y Cajal. Madrid. Spain
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Submitted Phenotype Details
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This CF patient presents the genotype [F508del] + [519delT]. (pers. corr. T. Casals
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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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