Mutation Details for c.3364delA

cDNA Name c.3364delA 
Protein Name p.Thr1122GlnfsX12 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name 3495delA 
Other Details The above mutation was detected by SSCP/heteroduplex analysis and was observed only once in a panel of English CF patients. 
Contributors Wallace A, Tassabehji M   1995-01-27
Institute St. Mary's Hospital, Manchester, England 
Submitted Phenotype Details  
Reference Wallace et al. (NL#65) 

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