Mutation Details for c.3746G>A

cDNA Name c.3746G>A 
Protein Name p.Gly1249Glu 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name G1249E 
Other Details This mutation was detected by DNA sequencing 
Contributors Wagner K, Greil I, Rosenkranz    1993-02-04
Institute University of Graz Harrachgasse, Austri 
Submitted Phenotype Details The patient (female) was diagnosed at 6 months old. She is PI, has positive sweat chloride and carries deltaF508 on the other allele. (pers.corr. Wagner)  
Reference Greil et al. 1994 

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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.

  • Carles S, Desgeorges M, Goldman A, Thiart R, Guittard C, Kitazos CA, de Ravel TJ, Westwood AT, Claustres M, Ramsay M   First report of CFTR mutations in black cystic fibrosis patients of southern African origin.   1996 009;33(9):802-4
  • Greil I, Wagner K, Rosenkranz W   A new missense mutation G1249E in exon 20 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.   1994 007-008;44(4):238-40

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The Database was last updated at Apr 25, 2011