Mutation Details for c.1A>C

cDNA Name c.1A>C 
Protein Name p.Met1Leu 
Exon or Intron exon 1 
Legacy Exon or Intron exon 1 
Legacy Name M1L 
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 This six year old child presented with chronic diarrhea.F508del 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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The Database was last updated at Apr 25, 2011