Mutation Details for c.578_579+5delAAGTATG
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cDNA Name
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c.578_579+5delAAGTATG
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Protein Name
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p.Glu193ValfsX20
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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710_711+5del7
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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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41 year old male patient with a clinical diagnosis of CF.
4040delA [HGVS c3908del] was detected on the other chromosome.
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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