Mutation Details for c.273+2t>G

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.273+2t>G 
Exon or Intron  
Other Details  
Contributors and Institutes
Martin Schwarz - St Mary's Hospital, Manchester
Jo Brock - St Mary's Hospital, Manchester
Jenny Shorto - St Mary's Hospital, Manchester
Megan Adaway - St Mary's Hospital, Manchester
  
Submitted Phenotype Details 3 year-old girl with a positive diagnosis of CF. Originally picked up on Newborn Screening as homozygous for the mutation. 
Reference  

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The Database was last updated at Apr 25, 2011