Mutation Details for c.489+2T>G

cDNA Name c.489+2T>G 
Exon or Intron intron 4 
Legacy Exon or Intron intron 4 
Legacy Name 621+2T->G 
Other Details This variation was detected by SSCP then identified by direct sequencing. It has been detected once among 105 unrelated CF chromosomes. 
Contributors Claustres M, Laussel M, Razakatsara G   1992-12-07
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Submitted Phenotype Details The female patient (6 years old) is PI, has moderate lung disease at 5 years of age and sweat chloride78/82 mmol/l. She also carries the R792X and L967S mutations. (pers. corr. Claustres) 
Reference Claustres et al. 1993 

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The Database was last updated at Apr 25, 2011