Mutation Details for c.2380delG
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cDNA Name
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c.2380delG
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Protein Name
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p.Val794CysfsX9
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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2512delG
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Other Details
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Contributors
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Bulman M, Brownsell E, Schwarz MJ.
2008-07-24
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Institute
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Regional Molecular Genetics Laboratory
St Mary’s Hospital, Manchester, England
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Submitted Phenotype Details
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Patient presented at 11 years of age.F508del was detected on the other chromosome.Patient is also heterozygous for the R297Q CF variant.No other sequence changes were found after sequencing the entire coding region of the gene.
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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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