Mutation Details for c.1210-1G>C

cDNA Name c.1210-1G>C 
Exon or Intron intron 9 
Legacy Exon or Intron intron 8 
Legacy Name 1342-1G->C 
Other Details This type of mutation is predicted to cause aberrant splicing leading to the loss of exon 9. Since CF transcripts missing exon 9 have been detected in normal epithelial cells, we are not positive that this mutation causes a disease. The patient carrying this mutation has a moderately severe disease and on the other chromosome carries the [delta]F508 mutation. We presume he inherited the splice site mutation from his father since the mother does not carry this mutation. This mutation was nto found on any other CF chromosomes from 16 Caucasian or 17 American Black CF patients. 
Contributors Cutting GR Curristin S   1991-01-04
Institute Johns Hopkins Hospital Baltimore, MD, USA 
Submitted Phenotype Details  
Reference Cutting & Curristin (NL #30) 

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The Database was last updated at Apr 25, 2011