Mutation Details for c.388C>G

cDNA Name c.388C>G 
Protein Name p.Leu130Val 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name L130V 
Other Details  
Contributors Bulman M, Brownsell E, Schwarz MJ.   2008-07-24
Institute Regional Molecular Genetics Laboratory St Mary’s Hospital, Manchester, England 
Submitted Phenotype Details 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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The Database was last updated at Apr 25, 2011