Mutation Details for c.3368-140A>C

cDNA Name c.3368-140A>C 
Exon or Intron intron 20 
Legacy Exon or Intron intron 17b 
Legacy Name 3500-140A/C 
Other Details This polymorphism was detected by SSCP in 8 of 72 (0.11) normal chromosomes. Among CF chromosomes, the polymorphism was detected in 0 of 20 chromosomes from [delta]F508 homozygotes, 5 of 14 (0.36) chromosomes from [delta]/non-[delta]F508 heterozygotes, and 7 of 12 chromosomes (0.58) from non-[delta]F508/non-[delta]F508 homozygotes. Based on this data, we believe that this intron 17 B polymorphism is a good marker for non-[delta]F508 mutations in CF patients.  
Contributors Parad RB, Gerard C   1992-01-17
Institute Harvard Medical School Boston, MA, USA 
Submitted Phenotype Details  
Reference Parad & Gerard 1992 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011