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 FĂ©rec 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