Mutation Details for c.965T>C

cDNA Name c.965T>C 
Protein Name p.Val322Ala 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name V322A 
Other Details A novel allele was identified by DGGE and direct sequencing. As this nucleotide change was identified through a neonatal screening program we have no arguments to consider it as a polymorphism or a mutation 
Contributors Ferec C, Quere I, Verlingue C, Raguenes O, Audrezet MP, Mercier B   1994-10-07
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in an individual with neonatal hypertrypsinemia. (pers. corr. Ferec) 
Reference FĂ©rec et al. (NL#63) 

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The Database was last updated at Apr 25, 2011