Mutation Details for c.1393-42G>A

cDNA Name c.1393-42G>A 
Exon or Intron intron 10 
Legacy Exon or Intron intron 9 
Legacy Name 1525-42G>A 
Other Details  
Contributors Iris Schrijver, Sudha Ramalingam,Ramalingam Sankaran,Steve Swanson,Charles Dunlop,Steven Keiles,Richard Moss,John Oehlert,Phyllis Gardner,E.Robert Wassman,Anja Kammesheidt   2006-03-16
Institute Stanford School of Medicine, Stanford Ambry Genetics Corporation, Irvine  
Submitted Phenotype Details Patient is an 18 month old male with chronic lung disease hypoxia and pulmonary hypertension. No second variant was found. The novel variant was also found in a 9 year old with failure to thrive and a 6 month old child with clinical suspicion of CF. 

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The Database was last updated at Apr 25, 2011