Mutation Details for c.869+3A>T

cDNA Name c.869+3A>T 
Exon or Intron intron 7 
Legacy Exon or Intron intron 6b 
Legacy Name 1001+3A>T 
Other Details This heterozygous mutation was identified in a patient of Thai origin. 
Contributors Iris Schrijver, Wikrom Karnasakul, Sudha Ramalingam, Ramalingam Sankaran, Richard Moss, Phyllis Gardner   2004-01-22
Institute Stanford University School of Medicine, Stanford, CA,USA 
Submitted Phenotype Details The patient is a 4 month old male infant who presented with hyponatremic hypochloremic metabolic alkalosis and pneumonia. The other allele carried another splice site mutation 405+1GàA, previously reported by Dork et al. in a 20 year old pancreatic insufficient male with a benign clinical course. 

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The Database was last updated at Apr 25, 2011