Mutation Details for c.388C>G
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cDNA Name
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c.388C>G
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Protein Name
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p.Leu130Val
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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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L130V
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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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23 year old female patient with bronchiectasis, sweat chloride of 39mMol/L and sweat sodium of 60mMol/L. Patient colonized by Pseudomonas in her sputum. Patient is heterozygous for this sequence change.No other sequence changes were found after sequencing the entire coding region of the gene and performing MLPA for larger deletions and duplications.
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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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