Mutation Details for c.2596T>G

cDNA Name c.2596T>G 
Protein Name p.Cys866Gly 
Exon or Intron exon 15 
Legacy Exon or Intron exon 14a 
Legacy Name C866R 
Other Details This mutation was identified in a CBAVD patient originating from Morocco. 
Contributors Claustres M, Guittard C, Altieri JP   2004-09-23
Institute Laboratoire de Genetique Moleculaire, IURC<p> 641, Av. du Doyen Gaston Giraud<p> 34093 Montpellier Cedex 5, France 
Submitted Phenotype Details This missense mutation was found in a patient referred for CBAVD and carrying a complex allele on the other chromosome [p.R74W; p.V201M; p.D1270N] 

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