Mutation Details for c.3199G>A

cDNA Name c.3199G>A 
Protein Name p.Ala1067Thr 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name A1067T 
Other Details This child is 2 years old, carries the [delta]F508 mutation on the other chromosome, and is at this time a mild form of the disease. 
Contributors Mercier B, Audrezet MP, Quere I, Guillermit H, Verlingue C, Ferec C   1991-09-19
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The patient carries deltaF508 on the other allele.No additional clinical information available.(pers.corr. Ferec) 
Reference Férec et al. 1992 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • de Meeus A, Guittard C, Desgeorges M, Carles S, Demaille J, Claustres M   Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutatations. Mutations in brief no. 138. Online.   1998;11(6):480




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The Database was last updated at Apr 25, 2011