Mutation Details for c.489G>A

cDNA Name c.489G>A 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name 621G->A 
Other Details The 621 G->A splice mutation was detected in a 10 year old Native-African CF patient. Her other allele is the 3120+1 G->A mutation (NL #56 and #59). We presume that this mutation is disease causing since it disrupts the consensus splice donor site at the 3' end of exon 4. 
Contributors Mackova A, Macek MJr, Cutting GR   1994-10-18
Institute Center for Medical Genetics Baltimore, MD, USA 
Submitted Phenotype Details  
Reference Mackova et al. (NL#64) 

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The Database was last updated at Apr 25, 2011