Mutation Details for c.3276C>A

cDNA Name c.3276C>A 
Protein Name p.Tyr1092X 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name Y1092X(C->A) 
Other Details It was found in Toronto family #34 on a haplotype group IIa chromosome from the mother. It was not found in 52 other CF chromosomes nor 50 N chromosomes. The mutation destroys a RsaI site. 
Contributors Bozon D, Zielenski J, Tsui LC   1990-08-09
Institute The Hospital for Sick Children Toronto, ON, Canada 
Phenotype Information CFTR2
Reference Bozon et al. (Nl #23) 

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