Mutation Details for c.964G>A

cDNA Name c.964G>A 
Protein Name p.Val322Met 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name V322M (1096(G/A)) 
Other Details The nucleotide change G->A at position 1096 in exon 7 leads to V322M. 
Contributors Férec C, Quere I, Audrezet MP, Verlingue C, Guillermit H, Mercier B   1992-12-23
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a French CF patient. (pers.corr. Ferec) 
Reference Férec et al. (NL #50) 

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